Canonical Allele Identifier: CA213929
Gene: HNF4A HGNC NCBI

Linked Data

ClinVar Variation Id: 36349
dbSNP Id: rs193922472

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44413735A>G , CM000682.2:g.44413735A>G GRCh38
NC_000020.10:g.43042375A>G , CM000682.1:g.43042375A>G GRCh37
NC_000020.9:g.42475789A>G NCBI36
NG_009818.1:g.62935A>G , LRG_483:g.62935A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000316673.9:c.361A>G MANE Select ENSP00000315180.4:p.Ser121Gly
ENST00000316099.10:c.427A>G ENSP00000312987.3:p.Ser143Gly
ENST00000619550.5:c.401A>G
ENST00000683148.1:n.403A>G
ENST00000683657.1:n.1551A>G
ENST00000316099.9:c.427A>G ENSP00000312987.3:p.Ser143Gly
ENST00000316099.8:c.427A>G ENSP00000312987.3:p.Ser143Gly
ENST00000316673.8:c.361A>G ENSP00000315180.4:p.Ser121Gly
ENST00000372920.1:c.*194A>G ENSP00000362011.1:n.*194A>G
ENST00000415691.2:c.427A>G ENSP00000412111.1:p.Ser143Gly
ENST00000443598.6:c.427A>G ENSP00000410911.2:p.Ser143Gly
ENST00000457232.5:c.361A>G ENSP00000396216.1:p.Ser121Gly
ENST00000609795.5:c.361A>G ENSP00000476609.1:p.Ser121Gly
ENST00000619550.4:c.352A>G ENSP00000481331.1:p.Ser118Gly
NM_000457.4:c.427A>G , LRG_483t2:c.427A>G NP_000448.3:p.Ser143Gly
NM_001030003.2:c.361A>G NP_001025174.1:p.Ser121Gly
NM_001030004.2:c.361A>G NP_001025175.1:p.Ser121Gly
NM_001258355.1:c.406A>G NP_001245284.1:p.Ser136Gly
NM_001287182.1:c.352A>G NP_001274111.1:p.Ser118Gly
NM_001287183.1:c.352A>G , LRG_483t3:c.352A>G NP_001274112.1:p.Ser118Gly
NM_001287184.1:c.352A>G NP_001274113.1:p.Ser118Gly
NM_175914.4:c.361A>G , LRG_483t1:c.361A>G NP_787110.2:p.Ser121Gly
NM_178849.2:c.427A>G NP_849180.1:p.Ser143Gly
NM_178850.2:c.427A>G NP_849181.1:p.Ser143Gly
XM_005260407.2:c.544A>G XP_005260464.1:p.Ser182Gly
XM_011528797.1:c.475A>G XP_011527099.1:p.Ser159Gly
XM_011528798.1:c.475A>G XP_011527100.1:p.Ser159Gly
XM_005260407.4:c.544A>G XP_005260464.1:p.Ser182Gly
NM_001030003.3:c.361A>G NP_001025174.1:p.Ser121Gly
NM_001030004.3:c.361A>G NP_001025175.1:p.Ser121Gly
NM_001258355.2:c.406A>G NP_001245284.1:p.Ser136Gly
NM_001287182.2:c.352A>G NP_001274111.1:p.Ser118Gly
NM_001287184.2:c.352A>G NP_001274113.1:p.Ser118Gly
NM_178849.3:c.427A>G NP_849180.1:p.Ser143Gly
NM_178850.3:c.427A>G NP_849181.1:p.Ser143Gly
NM_000457.5:c.427A>G NP_000448.3:p.Ser143Gly
NM_000457.6:c.427A>G NP_000448.3:p.Ser143Gly
NM_001287183.2:c.352A>G NP_001274112.1:p.Ser118Gly
NM_175914.5:c.361A>G MANE Select NP_787110.2:p.Ser121Gly