Canonical Allele Identifier: CA2407489650

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946203C= , CM000684.2:g.43946203C=	GRCh38
NC_000022.10:g.44342083C= , CM000684.1:g.44342083C=	GRCh37
NC_000022.9:g.42673416C=	NCBI36
NG_008631.1:g.27465C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000216180.8:c.1267C= MANE Select	ENSP00000216180.3:p.Gln423=
ENST00000216180.7:c.1267C=	ENSP00000216180.3:p.Gln423=
ENST00000406117.6:c.*849+1408C=	ENSP00000384668.2:n.*849+1408C=
ENST00000423180.2:c.1255C=	ENSP00000397987.2:p.Gln419=
NM_025225.2:c.1267C=	NP_079501.2:p.Gln423=
NM_025225.3:c.1267C= MANE Select	NP_079501.2:p.Gln423=