Canonical Allele Identifier: CA514856643

Gene: PNPLA3

Linked Data

• dbSNP Id: rs2146776427
• MyVariant Identifiers: chr22:g.44324724C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928844C>T , CM000684.2:g.43928844C>T	GRCh38
NC_000022.10:g.44324724C>T , CM000684.1:g.44324724C>T	GRCh37
NC_000022.9:g.42656057C>T	NCBI36
NG_008631.1:g.10106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.441C>T MANE Select	ENSP00000216180.3:p.Phe147=
ENST00000216180.7:c.441C>T	ENSP00000216180.3:p.Phe147=
ENST00000406117.6:c.*73C>T	ENSP00000384668.2:n.*73C>T
ENST00000423180.2:c.429C>T	ENSP00000397987.2:p.Phe143=
ENST00000478713.1:n.475C>T
NM_025225.2:c.441C>T	NP_079501.2:p.Phe147=
NM_025225.3:c.441C>T MANE Select	NP_079501.2:p.Phe147=