Canonical Allele Identifier: CA409110193
Gene: HNF4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44428448G>C , CM000682.2:g.44428448G>C GRCh38
NC_000020.10:g.43057088G>C , CM000682.1:g.43057088G>C GRCh37
NC_000020.9:g.42490502G>C NCBI36
NG_009818.1:g.77648G>C , LRG_483:g.77648G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.1177G>C MANE Select ENSP00000315180.4:p.Gly393Arg
ENST00000316099.10:c.1243G>C ENSP00000312987.3:p.Gly415Arg
ENST00000316099.9:c.1243G>C ENSP00000312987.3:p.Gly415Arg
ENST00000316099.8:c.1243G>C ENSP00000312987.3:p.Gly415Arg
ENST00000316673.8:c.1177G>C ENSP00000315180.4:p.Gly393Arg
ENST00000372920.1:c.*1010G>C ENSP00000362011.1:n.*1010G>C
ENST00000415691.2:c.1243G>C ENSP00000412111.1:p.Gly415Arg
ENST00000457232.5:c.1177G>C ENSP00000396216.1:p.Gly393Arg
ENST00000619550.4:c.1168G>C ENSP00000481331.1:p.Gly390Arg
NM_000457.4:c.1243G>C , LRG_483t2:c.1243G>C NP_000448.3:p.Gly415Arg
NM_001030003.2:c.1177G>C NP_001025174.1:p.Gly393Arg
NM_001258355.1:c.1222G>C NP_001245284.1:p.Gly408Arg
NM_001287182.1:c.1168G>C NP_001274111.1:p.Gly390Arg
NM_001287183.1:c.1168G>C , LRG_483t3:c.1168G>C NP_001274112.1:p.Gly390Arg
NM_175914.4:c.1177G>C , LRG_483t1:c.1177G>C NP_787110.2:p.Gly393Arg
NM_178849.2:c.1243G>C NP_849180.1:p.Gly415Arg
XM_005260407.2:c.1360G>C XP_005260464.1:p.Gly454Arg
XM_011528797.1:c.1291G>C XP_011527099.1:p.Gly431Arg
XM_011528798.1:c.1291G>C XP_011527100.1:p.Gly431Arg
XM_005260407.4:c.1360G>C XP_005260464.1:p.Gly454Arg
NM_001030003.3:c.1177G>C NP_001025174.1:p.Gly393Arg
NM_001258355.2:c.1222G>C NP_001245284.1:p.Gly408Arg
NM_001287182.2:c.1168G>C NP_001274111.1:p.Gly390Arg
NM_178849.3:c.1243G>C NP_849180.1:p.Gly415Arg
NM_000457.5:c.1243G>C NP_000448.3:p.Gly415Arg
NM_000457.6:c.1243G>C NP_000448.3:p.Gly415Arg
NM_001287183.2:c.1168G>C NP_001274112.1:p.Gly390Arg
NM_175914.5:c.1177G>C MANE Select NP_787110.2:p.Gly393Arg