Canonical Allele Identifier: CA9870497

Gene: HNF4A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44428470G>A , CM000682.2:g.44428470G>A	GRCh38
NC_000020.10:g.43057110G>A , CM000682.1:g.43057110G>A	GRCh37
NC_000020.9:g.42490524G>A	NCBI36
NG_009818.1:g.77670G>A , LRG_483:g.77670G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_175914.5:c.1199G>A MANE Select	NP_787110.2:p.Arg400Gln
ENST00000316673.9:c.1199G>A MANE Select	ENSP00000315180.4:p.Arg400Gln
NM_000457.4:c.1265G>A , LRG_483t2:c.1265G>A	NP_000448.3:p.Arg422Gln
NM_000457.5:c.1265G>A	NP_000448.3:p.Arg422Gln
NM_000457.6:c.1265G>A	NP_000448.3:p.Arg422Gln
NM_001030003.2:c.1186+13G>A	NP_001025174.1:n.1186+13G>A
NM_001030003.3:c.1186+13G>A	NP_001025174.1:n.1186+13G>A
NM_001258355.1:c.1244G>A	NP_001245284.1:p.Arg415Gln
NM_001258355.2:c.1244G>A	NP_001245284.1:p.Arg415Gln
NM_001287182.1:c.1177+13G>A	NP_001274111.1:n.1177+13G>A
NM_001287182.2:c.1177+13G>A	NP_001274111.1:n.1177+13G>A
NM_001287183.1:c.1190G>A , LRG_483t3:c.1190G>A	NP_001274112.1:p.Arg397Gln
NM_001287183.2:c.1190G>A	NP_001274112.1:p.Arg397Gln
NM_175914.4:c.1199G>A , LRG_483t1:c.1199G>A	NP_787110.2:p.Arg400Gln
NM_178849.2:c.1252+13G>A	NP_849180.1:n.1252+13G>A
NM_178849.3:c.1252+13G>A	NP_849180.1:n.1252+13G>A
ENST00000316099.10:c.1265G>A	ENSP00000312987.3:p.Arg422Gln
ENST00000316099.8:c.1265G>A	ENSP00000312987.3:p.Arg422Gln
ENST00000316099.9:c.1265G>A	ENSP00000312987.3:p.Arg422Gln
ENST00000316673.8:c.1199G>A	ENSP00000315180.4:p.Arg400Gln
ENST00000372920.1:c.*1032G>A	ENSP00000362011.1:n.*1032G>A
ENST00000415691.2:c.1252+13G>A	ENSP00000412111.1:n.1252+13G>A
ENST00000457232.5:c.1186+13G>A	ENSP00000396216.1:n.1186+13G>A
ENST00000619550.4:c.1190G>A	ENSP00000481331.1:p.Arg397Gln
XM_005260407.2:c.1382G>A	XP_005260464.1:p.Arg461Gln
XM_005260407.4:c.1382G>A	XP_005260464.1:p.Arg461Gln
XM_011528797.1:c.1300+13G>A	XP_011527099.1:n.1300+13G>A
XM_011528798.1:c.1313G>A	XP_011527100.1:p.Arg438Gln