Canonical Allele Identifier: CA411860119
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1383637440

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928837C>T , CM000684.2:g.43928837C>T GRCh38
NC_000022.10:g.44324717C>T , CM000684.1:g.44324717C>T GRCh37
NC_000022.9:g.42656050C>T NCBI36
NG_008631.1:g.10099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.434C>T MANE Select ENSP00000216180.3:p.Ser145Phe
ENST00000216180.7:c.434C>T ENSP00000216180.3:p.Ser145Phe
ENST00000406117.6:c.*66C>T ENSP00000384668.2:n.*66C>T
ENST00000423180.2:c.422C>T ENSP00000397987.2:p.Ser141Phe
ENST00000478713.1:n.468C>T
NM_025225.2:c.434C>T NP_079501.2:p.Ser145Phe
NM_025225.3:c.434C>T MANE Select NP_079501.2:p.Ser145Phe