Canonical Allele Identifier: CA409104248
Community Standard Title: NM_175914.5(HNF4A):c.270C>G (p.Cys90Trp)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44407426C>G , CM000682.2:g.44407426C>G GRCh38
NC_000020.10:g.43036066C>G , CM000682.1:g.43036066C>G GRCh37
NC_000020.9:g.42469480C>G NCBI36
NG_009818.1:g.56626C>G , LRG_483:g.56626C>G

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.270C>G MANE Select NP_787110.2:p.Cys90Trp
ENST00000316673.9:c.270C>G MANE Select ENSP00000315180.4:p.Cys90Trp
NM_000457.4:c.336C>G , LRG_483t2:c.336C>G NP_000448.3:p.Cys112Trp
NM_000457.5:c.336C>G NP_000448.3:p.Cys112Trp
NM_000457.6:c.336C>G NP_000448.3:p.Cys112Trp
NM_001030003.2:c.270C>G NP_001025174.1:p.Cys90Trp
NM_001030003.3:c.270C>G NP_001025174.1:p.Cys90Trp
NM_001030004.2:c.270C>G NP_001025175.1:p.Cys90Trp
NM_001030004.3:c.270C>G NP_001025175.1:p.Cys90Trp
NM_001258355.1:c.315C>G NP_001245284.1:p.Cys105Trp
NM_001258355.2:c.315C>G NP_001245284.1:p.Cys105Trp
NM_001287182.1:c.261C>G NP_001274111.1:p.Cys87Trp
NM_001287182.2:c.261C>G NP_001274111.1:p.Cys87Trp
NM_001287183.1:c.261C>G , LRG_483t3:c.261C>G NP_001274112.1:p.Cys87Trp
NM_001287183.2:c.261C>G NP_001274112.1:p.Cys87Trp
NM_001287184.1:c.261C>G NP_001274113.1:p.Cys87Trp
NM_001287184.2:c.261C>G NP_001274113.1:p.Cys87Trp
NM_175914.4:c.270C>G , LRG_483t1:c.270C>G NP_787110.2:p.Cys90Trp
NM_178849.2:c.336C>G NP_849180.1:p.Cys112Trp
NM_178849.3:c.336C>G NP_849180.1:p.Cys112Trp
NM_178850.2:c.336C>G NP_849181.1:p.Cys112Trp
NM_178850.3:c.336C>G NP_849181.1:p.Cys112Trp
ENST00000316099.10:c.336C>G ENSP00000312987.3:p.Cys112Trp
ENST00000316099.8:c.336C>G ENSP00000312987.3:p.Cys112Trp
ENST00000316099.9:c.336C>G ENSP00000312987.3:p.Cys112Trp
ENST00000316673.8:c.270C>G ENSP00000315180.4:p.Cys90Trp
ENST00000372920.1:c.*103C>G ENSP00000362011.1:n.*103C>G
ENST00000415691.2:c.336C>G ENSP00000412111.1:p.Cys112Trp
ENST00000443598.6:c.336C>G ENSP00000410911.2:p.Cys112Trp
ENST00000457232.5:c.270C>G ENSP00000396216.1:p.Cys90Trp
ENST00000609262.5:c.261C>G ENSP00000476310.1:p.Cys87Trp
ENST00000609795.5:c.270C>G ENSP00000476609.1:p.Cys90Trp
ENST00000619550.4:c.261C>G ENSP00000481331.1:p.Cys87Trp
ENST00000619550.5:c.310C>G
ENST00000681977.1:c.312C>G ENSP00000507189.1:p.Cys104Trp
ENST00000682169.1:c.289C>G
ENST00000683148.1:n.312C>G
ENST00000683657.1:n.1460C>G
ENST00000684046.1:c.312C>G ENSP00000507555.1:p.Cys104Trp
ENST00000684136.1:c.322C>G ENSP00000507389.1:n.322C>G
ENST00000684476.1:c.293C>G ENSP00000507529.1:p.Ala98Gly
XM_005260407.2:c.453C>G XP_005260464.1:p.Cys151Trp
XM_005260407.4:c.453C>G XP_005260464.1:p.Cys151Trp
XM_011528797.1:c.384C>G XP_011527099.1:p.Cys128Trp
XM_011528798.1:c.384C>G XP_011527100.1:p.Cys128Trp