Canonical Allele Identifier: CA409107529
Gene: HNF4A HGNC NCBI

Linked Data

dbSNP Id: rs1948918078

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44419823A>G , CM000682.2:g.44419823A>G GRCh38
NC_000020.10:g.43048463A>G , CM000682.1:g.43048463A>G GRCh37
NC_000020.9:g.42481877A>G NCBI36
NG_009818.1:g.69023A>G , LRG_483:g.69023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.773A>G MANE Select ENSP00000315180.4:p.Gln258Arg
ENST00000316099.10:c.839A>G ENSP00000312987.3:p.Gln280Arg
ENST00000619550.5:c.813A>G
ENST00000683148.1:n.815A>G
ENST00000683657.1:n.1963A>G
ENST00000316099.9:c.839A>G ENSP00000312987.3:p.Gln280Arg
ENST00000316099.8:c.839A>G ENSP00000312987.3:p.Gln280Arg
ENST00000316673.8:c.773A>G ENSP00000315180.4:p.Gln258Arg
ENST00000372920.1:c.*606A>G ENSP00000362011.1:n.*606A>G
ENST00000415691.2:c.839A>G ENSP00000412111.1:p.Gln280Arg
ENST00000443598.6:c.839A>G ENSP00000410911.2:p.Gln280Arg
ENST00000457232.5:c.773A>G ENSP00000396216.1:p.Gln258Arg
ENST00000609795.5:c.773A>G ENSP00000476609.1:p.Gln258Arg
ENST00000619550.4:c.764A>G ENSP00000481331.1:p.Gln255Arg
NM_000457.4:c.839A>G , LRG_483t2:c.839A>G NP_000448.3:p.Gln280Arg
NM_001030003.2:c.773A>G NP_001025174.1:p.Gln258Arg
NM_001030004.2:c.773A>G NP_001025175.1:p.Gln258Arg
NM_001258355.1:c.818A>G NP_001245284.1:p.Gln273Arg
NM_001287182.1:c.764A>G NP_001274111.1:p.Gln255Arg
NM_001287183.1:c.764A>G , LRG_483t3:c.764A>G NP_001274112.1:p.Gln255Arg
NM_001287184.1:c.764A>G NP_001274113.1:p.Gln255Arg
NM_175914.4:c.773A>G , LRG_483t1:c.773A>G NP_787110.2:p.Gln258Arg
NM_178849.2:c.839A>G NP_849180.1:p.Gln280Arg
NM_178850.2:c.839A>G NP_849181.1:p.Gln280Arg
XM_005260407.2:c.956A>G XP_005260464.1:p.Gln319Arg
XM_011528797.1:c.887A>G XP_011527099.1:p.Gln296Arg
XM_011528798.1:c.887A>G XP_011527100.1:p.Gln296Arg
XM_005260407.4:c.956A>G XP_005260464.1:p.Gln319Arg
NM_001030003.3:c.773A>G NP_001025174.1:p.Gln258Arg
NM_001030004.3:c.773A>G NP_001025175.1:p.Gln258Arg
NM_001258355.2:c.818A>G NP_001245284.1:p.Gln273Arg
NM_001287182.2:c.764A>G NP_001274111.1:p.Gln255Arg
NM_001287184.2:c.764A>G NP_001274113.1:p.Gln255Arg
NM_178849.3:c.839A>G NP_849180.1:p.Gln280Arg
NM_178850.3:c.839A>G NP_849181.1:p.Gln280Arg
NM_000457.5:c.839A>G NP_000448.3:p.Gln280Arg
NM_000457.6:c.839A>G NP_000448.3:p.Gln280Arg
NM_001287183.2:c.764A>G NP_001274112.1:p.Gln255Arg
NM_175914.5:c.773A>G MANE Select NP_787110.2:p.Gln258Arg