Canonical Allele Identifier: CA409109856
Community Standard Title: NM_175914.5(HNF4A):c.9C>G (p.Ser3Arg)
Gene: HNF4A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44355813C>G , CM000682.2:g.44355813C>G GRCh38
NC_000020.10:g.42984453C>G , CM000682.1:g.42984453C>G GRCh37
NC_000020.9:g.42417867C>G NCBI36
NG_009818.1:g.5013C>G , LRG_483:g.5013C>G

Transcript Alleles

HGVS Amino-acid Change
NM_175914.5:c.9C>G MANE Select NP_787110.2:p.Ser3Arg
ENST00000316673.9:c.9C>G MANE Select ENSP00000315180.4:p.Ser3Arg
NM_001030003.2:c.9C>G NP_001025174.1:p.Ser3Arg
NM_001030003.3:c.9C>G NP_001025174.1:p.Ser3Arg
NM_001030004.2:c.9C>G NP_001025175.1:p.Ser3Arg
NM_001030004.3:c.9C>G NP_001025175.1:p.Ser3Arg
NM_001287182.1:c.-223C>G NP_001274111.1:n.-223C>G
NM_001287182.2:c.-223C>G NP_001274111.1:n.-223C>G
NM_001287183.1:c.-223C>G , LRG_483t3:c.-223C>G NP_001274112.1:n.-223C>G
NM_001287183.2:c.-223C>G NP_001274112.1:n.-223C>G
NM_001287184.1:c.-223C>G NP_001274113.1:n.-223C>G
NM_001287184.2:c.-223C>G NP_001274113.1:n.-223C>G
NM_175914.4:c.9C>G , LRG_483t1:c.9C>G NP_787110.2:p.Ser3Arg
ENST00000316673.8:c.9C>G ENSP00000315180.4:p.Ser3Arg
ENST00000457232.5:c.9C>G ENSP00000396216.1:p.Ser3Arg
ENST00000609262.5:c.-223C>G ENSP00000476310.1:n.-223C>G
ENST00000609795.5:c.9C>G ENSP00000476609.1:p.Ser3Arg
ENST00000619550.4:c.-223C>G ENSP00000481331.1:n.-223C>G