Canonical Allele Identifier: CA10645649
Gene: PNPLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 341950
ClinVar RCV Id: RCV000347103
dbSNP Id: rs886057601
gnomAD v3: 22-43946453-T-G
gnomAD v4: 22-43946453-T-G
MyVariant Identifiers: chr22:g.44342333T>G (hg19) chr22:g.43946453T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946453T>G , CM000684.2:g.43946453T>G GRCh38
NC_000022.10:g.44342333T>G , CM000684.1:g.44342333T>G GRCh37
NC_000022.9:g.42673666T>G NCBI36
NG_008631.1:g.27715T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*71T>G MANE Select ENSP00000216180.3:n.*71T>G
ENST00000216180.7:c.*71T>G ENSP00000216180.3:n.*71T>G
ENST00000406117.6:c.*849+1658T>G ENSP00000384668.2:n.*849+1658T>G
ENST00000423180.2:c.*71T>G ENSP00000397987.2:n.*71T>G
NM_025225.2:c.*71T>G NP_079501.2:n.*71T>G
NM_025225.3:c.*71T>G MANE Select NP_079501.2:n.*71T>G
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