Canonical Allele Identifier: CA411860136
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776432

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928845A>T , CM000684.2:g.43928845A>T GRCh38
NC_000022.10:g.44324725A>T , CM000684.1:g.44324725A>T GRCh37
NC_000022.9:g.42656058A>T NCBI36
NG_008631.1:g.10107A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.442A>T MANE Select ENSP00000216180.3:p.Ile148Phe
ENST00000216180.7:c.442A>T ENSP00000216180.3:p.Ile148Phe
ENST00000406117.6:c.*74A>T ENSP00000384668.2:n.*74A>T
ENST00000423180.2:c.430A>T ENSP00000397987.2:p.Ile144Phe
ENST00000478713.1:n.476A>T
NM_025225.2:c.442A>T NP_079501.2:p.Ile148Phe
NM_025225.3:c.442A>T MANE Select NP_079501.2:p.Ile148Phe