Canonical Allele Identifier: CA2365768129
Community Standard Title: NM_175914.5(HNF4A):c.1138G= (p.Val380=)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44428409G= , CM000682.2:g.44428409G= GRCh38
NC_000020.10:g.43057049G= , CM000682.1:g.43057049G= GRCh37
NC_000020.9:g.42490463G= NCBI36
NG_009818.1:g.77609G= , LRG_483:g.77609G=

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.1138G= MANE Select NP_787110.2:p.Val380=
ENST00000316673.9:c.1138G= MANE Select ENSP00000315180.4:p.Val380=
NM_000457.4:c.1204G= , LRG_483t2:c.1204G= NP_000448.3:p.Val402=
NM_000457.5:c.1204G= NP_000448.3:p.Val402=
NM_000457.6:c.1204G= NP_000448.3:p.Val402=
NM_001030003.2:c.1138G= NP_001025174.1:p.Val380=
NM_001030003.3:c.1138G= NP_001025174.1:p.Val380=
NM_001258355.1:c.1183G= NP_001245284.1:p.Val395=
NM_001258355.2:c.1183G= NP_001245284.1:p.Val395=
NM_001287182.1:c.1129G= NP_001274111.1:p.Val377=
NM_001287182.2:c.1129G= NP_001274111.1:p.Val377=
NM_001287183.1:c.1129G= , LRG_483t3:c.1129G= NP_001274112.1:p.Val377=
NM_001287183.2:c.1129G= NP_001274112.1:p.Val377=
NM_175914.4:c.1138G= , LRG_483t1:c.1138G= NP_787110.2:p.Val380=
NM_178849.2:c.1204G= NP_849180.1:p.Val402=
NM_178849.3:c.1204G= NP_849180.1:p.Val402=
ENST00000316099.10:c.1204G= ENSP00000312987.3:p.Val402=
ENST00000316099.8:c.1204G= ENSP00000312987.3:p.Val402=
ENST00000316099.9:c.1204G= ENSP00000312987.3:p.Val402=
ENST00000316673.8:c.1138G= ENSP00000315180.4:p.Val380=
ENST00000372920.1:c.*971G= ENSP00000362011.1:n.*971G=
ENST00000415691.2:c.1204G= ENSP00000412111.1:p.Val402=
ENST00000457232.5:c.1138G= ENSP00000396216.1:p.Val380=
ENST00000619550.4:c.1129G= ENSP00000481331.1:p.Val377=
XM_005260407.2:c.1321G= XP_005260464.1:p.Val441=
XM_005260407.4:c.1321G= XP_005260464.1:p.Val441=
XM_011528797.1:c.1252G= XP_011527099.1:p.Val418=
XM_011528798.1:c.1252G= XP_011527100.1:p.Val418=