Canonical Allele Identifier: CA10277852
Gene: PNPLA3 HGNC NCBI
ClinVar RCV:
RCV004202286
ClinVar Variation:
2365898
dbSNP:
137916527
gnomAD v2:
22:44322848 G / A
gnomAD v3:
22:43926968 G / A
gnomAD v4:
chr22-43926968-G-A
Joint Max Group AF 0.00002863 (SAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00002995 (SAS)
MyVariant.info:
GRCh38 chr22:g.43926968G>A
GRCh37 chr22:g.44322848G>A
Revel Score:
ENST00000216180 (MANE Select) 0.251
ENST00000423180 0.251
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43926968G>A , CM000684.2:g.43926968G>A GRCh38
NC_000022.10:g.44322848G>A , CM000684.1:g.44322848G>A GRCh37
NC_000022.9:g.42654181G>A NCBI36
NG_008631.1:g.8230G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.221G>A MANE Select ENSP00000216180.3:p.Arg74Gln
ENST00000216180.7:c.221G>A ENSP00000216180.3:p.Arg74Gln
ENST00000406117.6:c.216G>A ENSP00000384668.2:p.Ala72=
ENST00000423180.2:c.209G>A ENSP00000397987.2:p.Arg70Gln
ENST00000478713.1:n.255G>A
NM_025225.2:c.221G>A NP_079501.2:p.Arg74Gln
NM_025225.3:c.221G>A MANE Select NP_079501.2:p.Arg74Gln
Search 100 bp 5'
Search 100 bp 3'