Canonical Allele Identifier: CA9870238
Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 2809249
ClinVar RCV Id: RCV003677399
dbSNP Id: rs147342965

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413769C>A , CM000682.2:g.44413769C>A GRCh38
NC_000020.10:g.43042409C>A , CM000682.1:g.43042409C>A GRCh37
NC_000020.9:g.42475823C>A NCBI36
NG_009818.1:g.62969C>A , LRG_483:g.62969C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.395C>A MANE Select ENSP00000315180.4:p.Ala132Glu
ENST00000316099.10:c.461C>A ENSP00000312987.3:p.Ala154Glu
ENST00000619550.5:c.435C>A
ENST00000683148.1:n.437C>A
ENST00000683657.1:n.1585C>A
ENST00000316099.9:c.461C>A ENSP00000312987.3:p.Ala154Glu
ENST00000316099.8:c.461C>A ENSP00000312987.3:p.Ala154Glu
ENST00000316673.8:c.395C>A ENSP00000315180.4:p.Ala132Glu
ENST00000372920.1:c.*228C>A ENSP00000362011.1:n.*228C>A
ENST00000415691.2:c.461C>A ENSP00000412111.1:p.Ala154Glu
ENST00000443598.6:c.461C>A ENSP00000410911.2:p.Ala154Glu
ENST00000457232.5:c.395C>A ENSP00000396216.1:p.Ala132Glu
ENST00000609795.5:c.395C>A ENSP00000476609.1:p.Ala132Glu
ENST00000619550.4:c.386C>A ENSP00000481331.1:p.Ala129Glu
NM_000457.4:c.461C>A , LRG_483t2:c.461C>A NP_000448.3:p.Ala154Glu
NM_001030003.2:c.395C>A NP_001025174.1:p.Ala132Glu
NM_001030004.2:c.395C>A NP_001025175.1:p.Ala132Glu
NM_001258355.1:c.440C>A NP_001245284.1:p.Ala147Glu
NM_001287182.1:c.386C>A NP_001274111.1:p.Ala129Glu
NM_001287183.1:c.386C>A , LRG_483t3:c.386C>A NP_001274112.1:p.Ala129Glu
NM_001287184.1:c.386C>A NP_001274113.1:p.Ala129Glu
NM_175914.4:c.395C>A , LRG_483t1:c.395C>A NP_787110.2:p.Ala132Glu
NM_178849.2:c.461C>A NP_849180.1:p.Ala154Glu
NM_178850.2:c.461C>A NP_849181.1:p.Ala154Glu
XM_005260407.2:c.578C>A XP_005260464.1:p.Ala193Glu
XM_011528797.1:c.509C>A XP_011527099.1:p.Ala170Glu
XM_011528798.1:c.509C>A XP_011527100.1:p.Ala170Glu
XM_005260407.4:c.578C>A XP_005260464.1:p.Ala193Glu
NM_001030003.3:c.395C>A NP_001025174.1:p.Ala132Glu
NM_001030004.3:c.395C>A NP_001025175.1:p.Ala132Glu
NM_001258355.2:c.440C>A NP_001245284.1:p.Ala147Glu
NM_001287182.2:c.386C>A NP_001274111.1:p.Ala129Glu
NM_001287184.2:c.386C>A NP_001274113.1:p.Ala129Glu
NM_178849.3:c.461C>A NP_849180.1:p.Ala154Glu
NM_178850.3:c.461C>A NP_849181.1:p.Ala154Glu
NM_000457.5:c.461C>A NP_000448.3:p.Ala154Glu
NM_000457.6:c.461C>A NP_000448.3:p.Ala154Glu
NM_001287183.2:c.386C>A NP_001274112.1:p.Ala129Glu
NM_175914.5:c.395C>A MANE Select NP_787110.2:p.Ala132Glu