Canonical Allele Identifier: CA411860134
Gene: PNPLA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr22:g.44324724C>A (hg19) chr22:g.43928844C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.441C>A MANE Select ENSP00000216180.3:p.Phe147Leu
ENST00000216180.7:c.441C>A ENSP00000216180.3:p.Phe147Leu
ENST00000406117.6:c.*73C>A ENSP00000384668.2:n.*73C>A
ENST00000423180.2:c.429C>A ENSP00000397987.2:p.Phe143Leu
ENST00000478713.1:n.475C>A
NM_025225.2:c.441C>A NP_079501.2:p.Phe147Leu
NM_025225.3:c.441C>A MANE Select NP_079501.2:p.Phe147Leu
Search 100 bp 5'
Search 100 bp 3'