Canonical Allele Identifier: CA515082935
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146793937
gnomAD v4: 22-43946313-C-G
MyVariant Identifiers: chr22:g.44342193C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946313C>G , CM000684.2:g.43946313C>G GRCh38
NC_000022.10:g.44342193C>G , CM000684.1:g.44342193C>G GRCh37
NC_000022.9:g.42673526C>G NCBI36
NG_008631.1:g.27575C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1377C>G MANE Select ENSP00000216180.3:p.Gly459=
ENST00000216180.7:c.1377C>G ENSP00000216180.3:p.Gly459=
ENST00000406117.6:c.*849+1518C>G ENSP00000384668.2:n.*849+1518C>G
ENST00000423180.2:c.1365C>G ENSP00000397987.2:p.Gly455=
NM_025225.2:c.1377C>G NP_079501.2:p.Gly459=
NM_025225.3:c.1377C>G MANE Select NP_079501.2:p.Gly459=
Search 100 bp 5'
Search 100 bp 3'