Canonical Allele Identifier: CA16607985
Gene: HNF4A HGNC NCBI

Linked Data

dbSNP Id: rs1057524790

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44406234T>C , CM000682.2:g.44406234T>C GRCh38
NC_000020.10:g.43034874T>C , CM000682.1:g.43034874T>C GRCh37
NC_000020.9:g.42468288T>C NCBI36
NG_009818.1:g.55434T>C , LRG_483:g.55434T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000316673.9:c.224+2T>C MANE Select ENSP00000315180.4:n.224+2T>C
ENST00000316099.10:c.290+2T>C ENSP00000312987.3:n.290+2T>C
ENST00000619550.5:c.264+2T>C
ENST00000681977.1:c.266+2T>C ENSP00000507189.1:n.266+2T>C
ENST00000682169.1:c.243+2T>C
ENST00000683148.1:n.266+2T>C
ENST00000683657.1:n.268T>C
ENST00000684046.1:c.266+2T>C ENSP00000507555.1:n.266+2T>C
ENST00000684136.1:c.266+2T>C ENSP00000507389.1:n.266+2T>C
ENST00000684476.1:c.247+2T>C ENSP00000507529.1:n.247+2T>C
ENST00000316099.9:c.290+2T>C ENSP00000312987.3:n.290+2T>C
ENST00000316099.8:c.290+2T>C ENSP00000312987.3:n.290+2T>C
ENST00000316673.8:c.224+2T>C ENSP00000315180.4:n.224+2T>C
ENST00000372920.1:c.*57+2T>C ENSP00000362011.1:n.*57+2T>C
ENST00000415691.2:c.290+2T>C ENSP00000412111.1:n.290+2T>C
ENST00000443598.6:c.290+2T>C ENSP00000410911.2:n.290+2T>C
ENST00000457232.5:c.224+2T>C ENSP00000396216.1:n.224+2T>C
ENST00000609262.5:c.215+2T>C ENSP00000476310.1:n.215+2T>C
ENST00000609795.5:c.224+2T>C ENSP00000476609.1:n.224+2T>C
ENST00000619550.4:c.215+2T>C ENSP00000481331.1:n.215+2T>C
NM_000457.4:c.290+2T>C , LRG_483t2:c.290+2T>C NP_000448.3:n.290+2T>C
NM_001030003.2:c.224+2T>C NP_001025174.1:n.224+2T>C
NM_001030004.2:c.224+2T>C NP_001025175.1:n.224+2T>C
NM_001258355.1:c.269+2T>C NP_001245284.1:n.269+2T>C
NM_001287182.1:c.215+2T>C NP_001274111.1:n.215+2T>C
NM_001287183.1:c.215+2T>C , LRG_483t3:c.215+2T>C NP_001274112.1:n.215+2T>C
NM_001287184.1:c.215+2T>C NP_001274113.1:n.215+2T>C
NM_175914.4:c.224+2T>C , LRG_483t1:c.224+2T>C NP_787110.2:n.224+2T>C
NM_178849.2:c.290+2T>C NP_849180.1:n.290+2T>C
NM_178850.2:c.290+2T>C NP_849181.1:n.290+2T>C
XM_005260407.2:c.407+2T>C XP_005260464.1:n.407+2T>C
XM_011528797.1:c.338+2T>C XP_011527099.1:n.338+2T>C
XM_011528798.1:c.338+2T>C XP_011527100.1:n.338+2T>C
XM_005260407.4:c.407+2T>C XP_005260464.1:n.407+2T>C
NM_001030003.3:c.224+2T>C NP_001025174.1:n.224+2T>C
NM_001030004.3:c.224+2T>C NP_001025175.1:n.224+2T>C
NM_001258355.2:c.269+2T>C NP_001245284.1:n.269+2T>C
NM_001287182.2:c.215+2T>C NP_001274111.1:n.215+2T>C
NM_001287184.2:c.215+2T>C NP_001274113.1:n.215+2T>C
NM_178849.3:c.290+2T>C NP_849180.1:n.290+2T>C
NM_178850.3:c.290+2T>C NP_849181.1:n.290+2T>C
NM_000457.5:c.290+2T>C NP_000448.3:n.290+2T>C
NM_000457.6:c.290+2T>C NP_000448.3:n.290+2T>C
NM_001287183.2:c.215+2T>C NP_001274112.1:n.215+2T>C
NM_175914.5:c.224+2T>C MANE Select NP_787110.2:n.224+2T>C