Canonical Allele Identifier: CA2365766418
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44424147T= , CM000682.2:g.44424147T= GRCh38
NC_000020.10:g.43052787T= , CM000682.1:g.43052787T= GRCh37
NC_000020.9:g.42486201T= NCBI36
NG_009818.1:g.73347T= , LRG_483:g.73347T=

Transcript Alleles

HGVS Amino-acid change
ENST00000316673.9:c.956T= MANE Select ENSP00000315180.4:p.Leu319=
ENST00000316099.10:c.1022T= ENSP00000312987.3:p.Leu341=
ENST00000619550.5:c.996T=
ENST00000316099.9:c.1022T= ENSP00000312987.3:p.Leu341=
ENST00000316099.8:c.1022T= ENSP00000312987.3:p.Leu341=
ENST00000316673.8:c.956T= ENSP00000315180.4:p.Leu319=
ENST00000372920.1:c.*789T= ENSP00000362011.1:n.*789T=
ENST00000415691.2:c.1022T= ENSP00000412111.1:p.Leu341=
ENST00000443598.6:c.1022T= ENSP00000410911.2:p.Leu341=
ENST00000457232.5:c.956T= ENSP00000396216.1:p.Leu319=
ENST00000609795.5:c.956T= ENSP00000476609.1:p.Leu319=
ENST00000619550.4:c.947T= ENSP00000481331.1:p.Leu316=
NM_000457.4:c.1022T= , LRG_483t2:c.1022T= NP_000448.3:p.Leu341=
NM_001030003.2:c.956T= NP_001025174.1:p.Leu319=
NM_001030004.2:c.956T= NP_001025175.1:p.Leu319=
NM_001258355.1:c.1001T= NP_001245284.1:p.Leu334=
NM_001287182.1:c.947T= NP_001274111.1:p.Leu316=
NM_001287183.1:c.947T= , LRG_483t3:c.947T= NP_001274112.1:p.Leu316=
NM_001287184.1:c.947T= NP_001274113.1:p.Leu316=
NM_175914.4:c.956T= , LRG_483t1:c.956T= NP_787110.2:p.Leu319=
NM_178849.2:c.1022T= NP_849180.1:p.Leu341=
NM_178850.2:c.1022T= NP_849181.1:p.Leu341=
XM_005260407.2:c.1139T= XP_005260464.1:p.Leu380=
XM_011528797.1:c.1070T= XP_011527099.1:p.Leu357=
XM_011528798.1:c.1070T= XP_011527100.1:p.Leu357=
XM_005260407.4:c.1139T= XP_005260464.1:p.Leu380=
NM_001030003.3:c.956T= NP_001025174.1:p.Leu319=
NM_001030004.3:c.956T= NP_001025175.1:p.Leu319=
NM_001258355.2:c.1001T= NP_001245284.1:p.Leu334=
NM_001287182.2:c.947T= NP_001274111.1:p.Leu316=
NM_001287184.2:c.947T= NP_001274113.1:p.Leu316=
NM_178849.3:c.1022T= NP_849180.1:p.Leu341=
NM_178850.3:c.1022T= NP_849181.1:p.Leu341=
NM_000457.5:c.1022T= NP_000448.3:p.Leu341=
NM_000457.6:c.1022T= NP_000448.3:p.Leu341=
NM_001287183.2:c.947T= NP_001274112.1:p.Leu316=
NM_175914.5:c.956T= MANE Select NP_787110.2:p.Leu319=