Canonical Allele Identifier: CA411848145
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946365C>G , CM000684.2:g.43946365C>G GRCh38
NC_000022.10:g.44342245C>G , CM000684.1:g.44342245C>G GRCh37
NC_000022.9:g.42673578C>G NCBI36
NG_008631.1:g.27627C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1429C>G MANE Select ENSP00000216180.3:p.Leu477Val
ENST00000216180.7:c.1429C>G ENSP00000216180.3:p.Leu477Val
ENST00000406117.6:c.*849+1570C>G ENSP00000384668.2:n.*849+1570C>G
ENST00000423180.2:c.1417C>G ENSP00000397987.2:p.Leu473Val
NM_025225.2:c.1429C>G NP_079501.2:p.Leu477Val
NM_025225.3:c.1429C>G MANE Select NP_079501.2:p.Leu477Val