Canonical Allele Identifier: CA639556783
Gene: PNPLA3 HGNC NCBI
ClinVar RCV:
RCV001144419
ClinVar Variation:
899690
dbSNP:
1410221181
gnomAD v2:
22:44342438 G / A
gnomAD v3:
22:43946558 G / A
gnomAD v4:
chr22-43946558-G-A
Joint Max Group AF 0.00001915 (NFE)
Exomes Max Group AF 0.0000203 (NFE)
MyVariant.info:
GRCh38 chr22:g.43946558G>A
GRCh37 chr22:g.44342438G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946558G>A , CM000684.2:g.43946558G>A GRCh38
NC_000022.10:g.44342438G>A , CM000684.1:g.44342438G>A GRCh37
NC_000022.9:g.42673771G>A NCBI36
NG_008631.1:g.27820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*176G>A MANE Select ENSP00000216180.3:n.*176G>A
ENST00000216180.7:c.*176G>A ENSP00000216180.3:n.*176G>A
ENST00000406117.6:c.*849+1763G>A ENSP00000384668.2:n.*849+1763G>A
ENST00000423180.2:c.*176G>A ENSP00000397987.2:n.*176G>A
NM_025225.2:c.*176G>A NP_079501.2:n.*176G>A
NM_025225.3:c.*176G>A MANE Select NP_079501.2:n.*176G>A
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