Canonical Allele Identifier: CA2407489722

Gene: PNPLA3

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946350T= , CM000684.2:g.43946350T=	GRCh38
NC_000022.10:g.44342230T= , CM000684.1:g.44342230T=	GRCh37
NC_000022.9:g.42673563T=	NCBI36
NG_008631.1:g.27612T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.1414T= MANE Select	ENSP00000216180.3:p.Phe472=
ENST00000216180.7:c.1414T=	ENSP00000216180.3:p.Phe472=
ENST00000406117.6:c.*849+1555T=	ENSP00000384668.2:n.*849+1555T=
ENST00000423180.2:c.1402T=	ENSP00000397987.2:p.Phe468=
NM_025225.2:c.1414T=	NP_079501.2:p.Phe472=
NM_025225.3:c.1414T= MANE Select	NP_079501.2:p.Phe472=