All transcript variants in gene HNF1A

Information The variants shown are described using the NM_000545.5 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.-4A>G r.(=) p.(=) g.121416568A>G - HNF1A_000032 rs561269721 - Germline - - - - Despoina Kalfakakou
?/? - c.-4A>G r.(=) p.(=) g.121416568A>G - HNF1A_000032 rs561269721 - Germline - - - - Despoina Kalfakakou
?/? - c.29C>T r.(?) p.(Thr10Met) g.121416600C>T - HNF1A_000056 rs774637975 - Germline - - - - Despoina Kalfakakou
-?/-? - c.92G>A r.(?) p.(Gly31Asp) g.121416663G>A - HNF1A_000019 rs137853247 - Germline - - - - Despoina Kalfakakou
-?/-? - c.92G>A r.(?) p.(Gly31Asp) g.121416663G>A - HNF1A_000019 rs137853247 - Germline - - - - Despoina Kalfakakou
-?/-? - c.99G>A r.(=) p.(=) g.121416670G>A - HNF1A_000016 rs538619966 - Germline - - - - Despoina Kalfakakou
-?/-? - c.99G>A r.(=) p.(=) g.121416670G>A - HNF1A_000016 rs538619966 - Germline - - - - Despoina Kalfakakou
?/? - c.238G>T r.(?) p.(Asp80Tyr) g.121416809G>T - HNF1A_000017 rs76845985 - Germline - - - - Despoina Kalfakakou
?/? - c.285G>A r.(=) p.(=) g.121416856G>A - HNF1A_000053 - - Germline - - - - Despoina Kalfakakou
?/? - c.292G>A r.(?) p.(Ala98Thr) g.121416863G>A - HNF1A_000007 - - Germline - - - - Despoina Kalfakakou
?/? - c.326+24G>A r.(=) p.(=) g.121416921G>A - HNF1A_000018 - - Germline - - - - Despoina Kalfakakou
?/? - c.326+25C>T r.(=) p.(=) g.121416922C>T - HNF1A_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.326+25C>T r.(=) p.(=) g.121416922C>T - HNF1A_000028 - - Germline - - - - Despoina Kalfakakou
?/? - c.326+51C>T r.(=) p.(=) g.121416948C>T - HNF1A_000062 - - Germline - - - - Despoina Kalfakakou
?/? - c.327-21C>A r.(=) p.(=) g.121426615C>A - HNF1A_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.327-21C>A r.(=) p.(=) g.121426615C>A - HNF1A_000003 - - Germline - - - - Despoina Kalfakakou
?/? - c.327-21C>A r.(=) p.(=) g.121426615C>A - HNF1A_000003 - - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
-/- - c.336G>A r.(=) p.(=) g.121426645G>A - HNF1A_000010 rs371365341 - Germline - - - - Despoina Kalfakakou
?/? - c.341G>A r.(?) p.(Arg114His) g.121426650G>A - HNF1A_000047 rs139016696 - Germline - - - - Despoina Kalfakakou
?/? - c.355G>C r.(?) p.(Val119Leu) g.121426664G>C - HNF1A_000059 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.481G>A r.(?) p.(Ala161Thr) g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou
?/? - c.526+18C>G r.(=) p.(=) g.121426853C>G - HNF1A_000058 - - Germline - - - - Despoina Kalfakakou
?/? - c.527-6C>T r.(=) p.(=) g.121431317C>T - HNF1A_000024 - - Germline - - - - Despoina Kalfakakou
?/? - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou
?/? - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou
?/? - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou
?/? - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou
?/? - c.693G>A r.(=) p.(=) g.121431489G>A - HNF1A_000020 rs145240086 - Germline - - - - Despoina Kalfakakou
?/? - c.713+14C>T r.(=) p.(=) g.121431523C>T - HNF1A_000055 rs193922601 - Germline - - - - Despoina Kalfakakou
?/? - c.713+50G>A r.(=) p.(=) g.121431559G>A - HNF1A_000011 - - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.716C>T r.(?) p.(Ala239Val) g.121431969C>T - HNF1A_000005 rs587778397 - Germline - - - - Despoina Kalfakakou
?/? - c.775G>A r.(?) p.(Val259Ile) g.121432028G>A - HNF1A_000045 - - Germline - - - - Despoina Kalfakakou
?/? - c.862G>T r.(?) p.(Gly288Trp) g.121432115G>T - HNF1A_000041 - - Germline - - - - Despoina Kalfakakou
?/? - c.862G>T r.(?) p.(Gly288Trp) g.121432115G>T - HNF1A_000041 - - Germline - - - - Despoina Kalfakakou
?/? - c.865C>T r.(?) p.(Pro289Ser) g.121432118C>T - HNF1A_000042 - - Germline - - - - Despoina Kalfakakou
?/? - c.867C>A r.(=) p.(=) g.121432120C>A - HNF1A_000033 - - Germline - - - - Despoina Kalfakakou
?/? - c.873A>G r.(=) p.(=) g.121432126A>G - HNF1A_000043 - - Germline - - - - Despoina Kalfakakou
?/? - c.942C>T r.(=) p.(=) g.121432195C>T - HNF1A_000048 - - Germline - - - - Despoina Kalfakakou
?/? - c.956-31T>C r.(=) p.(=) g.121434034T>C - HNF1A_000060 - - Germline - - - - Despoina Kalfakakou
?/? - c.956-24G>A r.(=) p.(=) g.121434041G>A - HNF1A_000054 - - Germline - - - - Despoina Kalfakakou
?/? - c.962G>A r.(?) p.(Arg321His) g.121434071G>A - HNF1A_000051 - - Germline - - - - Despoina Kalfakakou
?/? - c.984T>G r.(?) p.(Ser328Arg) g.121434093T>G - HNF1A_000040 - - Germline - - - - Despoina Kalfakakou
?/? - c.1061C>T r.(?) p.(Thr354Met) g.121434170C>T - HNF1A_000049 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-36C>T r.(=) p.(=) g.121434308C>T - HNF1A_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-36C>T r.(=) p.(=) g.121434308C>T - HNF1A_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-36C>T r.(=) p.(=) g.121434308C>T - HNF1A_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-36C>T r.(=) p.(=) g.121434308C>T - HNF1A_000006 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-34G>A r.(=) p.(=) g.121434310G>A - HNF1A_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-34G>A r.(=) p.(=) g.121434310G>A - HNF1A_000034 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
?/? - c.1108-27C>T r.(=) p.(=) g.121434317C>T - HNF1A_000001 - - Germline - - - - Despoina Kalfakakou
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