Canonical Allele Identifier: CA409105430
Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 427034
dbSNP Id: rs1085307913

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413709G>A , CM000682.2:g.44413709G>A GRCh38
NC_000020.10:g.43042349G>A , CM000682.1:g.43042349G>A GRCh37
NC_000020.9:g.42475763G>A NCBI36
NG_009818.1:g.62909G>A , LRG_483:g.62909G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000316673.9:c.335G>A MANE Select ENSP00000315180.4:p.Arg112Gln
ENST00000316099.10:c.401G>A ENSP00000312987.3:p.Arg134Gln
ENST00000619550.5:c.375G>A
ENST00000683148.1:n.377G>A
ENST00000683657.1:n.1525G>A
ENST00000316099.9:c.401G>A ENSP00000312987.3:p.Arg134Gln
ENST00000316099.8:c.401G>A ENSP00000312987.3:p.Arg134Gln
ENST00000316673.8:c.335G>A ENSP00000315180.4:p.Arg112Gln
ENST00000372920.1:c.*168G>A ENSP00000362011.1:n.*168G>A
ENST00000415691.2:c.401G>A ENSP00000412111.1:p.Arg134Gln
ENST00000443598.6:c.401G>A ENSP00000410911.2:p.Arg134Gln
ENST00000457232.5:c.335G>A ENSP00000396216.1:p.Arg112Gln
ENST00000609795.5:c.335G>A ENSP00000476609.1:p.Arg112Gln
ENST00000619550.4:c.326G>A ENSP00000481331.1:p.Arg109Gln
NM_000457.4:c.401G>A , LRG_483t2:c.401G>A NP_000448.3:p.Arg134Gln
NM_001030003.2:c.335G>A NP_001025174.1:p.Arg112Gln
NM_001030004.2:c.335G>A NP_001025175.1:p.Arg112Gln
NM_001258355.1:c.380G>A NP_001245284.1:p.Arg127Gln
NM_001287182.1:c.326G>A NP_001274111.1:p.Arg109Gln
NM_001287183.1:c.326G>A , LRG_483t3:c.326G>A NP_001274112.1:p.Arg109Gln
NM_001287184.1:c.326G>A NP_001274113.1:p.Arg109Gln
NM_175914.4:c.335G>A , LRG_483t1:c.335G>A NP_787110.2:p.Arg112Gln
NM_178849.2:c.401G>A NP_849180.1:p.Arg134Gln
NM_178850.2:c.401G>A NP_849181.1:p.Arg134Gln
XM_005260407.2:c.518G>A XP_005260464.1:p.Arg173Gln
XM_011528797.1:c.449G>A XP_011527099.1:p.Arg150Gln
XM_011528798.1:c.449G>A XP_011527100.1:p.Arg150Gln
XM_005260407.4:c.518G>A XP_005260464.1:p.Arg173Gln
NM_001030003.3:c.335G>A NP_001025174.1:p.Arg112Gln
NM_001030004.3:c.335G>A NP_001025175.1:p.Arg112Gln
NM_001258355.2:c.380G>A NP_001245284.1:p.Arg127Gln
NM_001287182.2:c.326G>A NP_001274111.1:p.Arg109Gln
NM_001287184.2:c.326G>A NP_001274113.1:p.Arg109Gln
NM_178849.3:c.401G>A NP_849180.1:p.Arg134Gln
NM_178850.3:c.401G>A NP_849181.1:p.Arg134Gln
NM_000457.5:c.401G>A NP_000448.3:p.Arg134Gln
NM_000457.6:c.401G>A NP_000448.3:p.Arg134Gln
NM_001287183.2:c.326G>A NP_001274112.1:p.Arg109Gln
NM_175914.5:c.335G>A MANE Select NP_787110.2:p.Arg112Gln