Canonical Allele Identifier: CA411848062
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946345C>G , CM000684.2:g.43946345C>G GRCh38
NC_000022.10:g.44342225C>G , CM000684.1:g.44342225C>G GRCh37
NC_000022.9:g.42673558C>G NCBI36
NG_008631.1:g.27607C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1409C>G MANE Select ENSP00000216180.3:p.Ser470Cys
ENST00000216180.7:c.1409C>G ENSP00000216180.3:p.Ser470Cys
ENST00000406117.6:c.*849+1550C>G ENSP00000384668.2:n.*849+1550C>G
ENST00000423180.2:c.1397C>G ENSP00000397987.2:p.Ser466Cys
NM_025225.2:c.1409C>G NP_079501.2:p.Ser470Cys
NM_025225.3:c.1409C>G MANE Select NP_079501.2:p.Ser470Cys