Canonical Allele Identifier: CA514856639
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776402
MyVariant Identifiers: chr22:g.44324718C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928838C>G , CM000684.2:g.43928838C>G GRCh38
NC_000022.10:g.44324718C>G , CM000684.1:g.44324718C>G GRCh37
NC_000022.9:g.42656051C>G NCBI36
NG_008631.1:g.10100C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.435C>G MANE Select ENSP00000216180.3:p.Ser145=
ENST00000216180.7:c.435C>G ENSP00000216180.3:p.Ser145=
ENST00000406117.6:c.*67C>G ENSP00000384668.2:n.*67C>G
ENST00000423180.2:c.423C>G ENSP00000397987.2:p.Ser141=
ENST00000478713.1:n.469C>G
NM_025225.2:c.435C>G NP_079501.2:p.Ser145=
NM_025225.3:c.435C>G MANE Select NP_079501.2:p.Ser145=
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