Canonical Allele Identifier: CA409105486
Gene: HNF4A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413720A>T , CM000682.2:g.44413720A>T GRCh38
NC_000020.10:g.43042360A>T , CM000682.1:g.43042360A>T GRCh37
NC_000020.9:g.42475774A>T NCBI36
NG_009818.1:g.62920A>T , LRG_483:g.62920A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.346A>T MANE Select ENSP00000315180.4:p.Ser116Cys
ENST00000316099.10:c.412A>T ENSP00000312987.3:p.Ser138Cys
ENST00000619550.5:c.386A>T
ENST00000683148.1:n.388A>T
ENST00000683657.1:n.1536A>T
ENST00000316099.9:c.412A>T ENSP00000312987.3:p.Ser138Cys
ENST00000316099.8:c.412A>T ENSP00000312987.3:p.Ser138Cys
ENST00000316673.8:c.346A>T ENSP00000315180.4:p.Ser116Cys
ENST00000372920.1:c.*179A>T ENSP00000362011.1:n.*179A>T
ENST00000415691.2:c.412A>T ENSP00000412111.1:p.Ser138Cys
ENST00000443598.6:c.412A>T ENSP00000410911.2:p.Ser138Cys
ENST00000457232.5:c.346A>T ENSP00000396216.1:p.Ser116Cys
ENST00000609795.5:c.346A>T ENSP00000476609.1:p.Ser116Cys
ENST00000619550.4:c.337A>T ENSP00000481331.1:p.Ser113Cys
NM_000457.4:c.412A>T , LRG_483t2:c.412A>T NP_000448.3:p.Ser138Cys
NM_001030003.2:c.346A>T NP_001025174.1:p.Ser116Cys
NM_001030004.2:c.346A>T NP_001025175.1:p.Ser116Cys
NM_001258355.1:c.391A>T NP_001245284.1:p.Ser131Cys
NM_001287182.1:c.337A>T NP_001274111.1:p.Ser113Cys
NM_001287183.1:c.337A>T , LRG_483t3:c.337A>T NP_001274112.1:p.Ser113Cys
NM_001287184.1:c.337A>T NP_001274113.1:p.Ser113Cys
NM_175914.4:c.346A>T , LRG_483t1:c.346A>T NP_787110.2:p.Ser116Cys
NM_178849.2:c.412A>T NP_849180.1:p.Ser138Cys
NM_178850.2:c.412A>T NP_849181.1:p.Ser138Cys
XM_005260407.2:c.529A>T XP_005260464.1:p.Ser177Cys
XM_011528797.1:c.460A>T XP_011527099.1:p.Ser154Cys
XM_011528798.1:c.460A>T XP_011527100.1:p.Ser154Cys
XM_005260407.4:c.529A>T XP_005260464.1:p.Ser177Cys
NM_001030003.3:c.346A>T NP_001025174.1:p.Ser116Cys
NM_001030004.3:c.346A>T NP_001025175.1:p.Ser116Cys
NM_001258355.2:c.391A>T NP_001245284.1:p.Ser131Cys
NM_001287182.2:c.337A>T NP_001274111.1:p.Ser113Cys
NM_001287184.2:c.337A>T NP_001274113.1:p.Ser113Cys
NM_178849.3:c.412A>T NP_849180.1:p.Ser138Cys
NM_178850.3:c.412A>T NP_849181.1:p.Ser138Cys
NM_000457.5:c.412A>T NP_000448.3:p.Ser138Cys
NM_000457.6:c.412A>T NP_000448.3:p.Ser138Cys
NM_001287183.2:c.337A>T NP_001274112.1:p.Ser113Cys
NM_175914.5:c.346A>T MANE Select NP_787110.2:p.Ser116Cys