Canonical Allele Identifier: CA411847525
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946198C>A , CM000684.2:g.43946198C>A GRCh38
NC_000022.10:g.44342078C>A , CM000684.1:g.44342078C>A GRCh37
NC_000022.9:g.42673411C>A NCBI36
NG_008631.1:g.27460C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1262C>A MANE Select ENSP00000216180.3:p.Pro421His
ENST00000216180.7:c.1262C>A ENSP00000216180.3:p.Pro421His
ENST00000406117.6:c.*849+1403C>A ENSP00000384668.2:n.*849+1403C>A
ENST00000423180.2:c.1250C>A ENSP00000397987.2:p.Pro417His
NM_025225.2:c.1262C>A NP_079501.2:p.Pro421His
NM_025225.3:c.1262C>A MANE Select NP_079501.2:p.Pro421His