Canonical Allele Identifier: CA10277853
Gene: PNPLA3 HGNC NCBI
ClinVar RCV:
RCV001148870
ClinVar Variation:
902367
dbSNP:
746140741
gnomAD v2:
22:44322853 G / A
gnomAD v3:
22:43926973 G / A
gnomAD v4:
chr22-43926973-G-A
Joint Max Group AF 0.00004346 (NFE)
Exomes Max Group AF 0.00004525 (NFE)
MyVariant.info:
GRCh38 chr22:g.43926973G>A
GRCh37 chr22:g.44322853G>A
Revel Score:
ENST00000216180 (MANE Select) 0.320
ENST00000423180 0.320
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43926973G>A , CM000684.2:g.43926973G>A GRCh38
NC_000022.10:g.44322853G>A , CM000684.1:g.44322853G>A GRCh37
NC_000022.9:g.42654186G>A NCBI36
NG_008631.1:g.8235G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.226G>A MANE Select ENSP00000216180.3:p.Ala76Thr
ENST00000216180.7:c.226G>A ENSP00000216180.3:p.Ala76Thr
ENST00000406117.6:c.221G>A ENSP00000384668.2:p.Gly74Asp
ENST00000423180.2:c.214G>A ENSP00000397987.2:p.Ala72Thr
ENST00000478713.1:n.260G>A
NM_025225.2:c.226G>A NP_079501.2:p.Ala76Thr
NM_025225.3:c.226G>A MANE Select NP_079501.2:p.Ala76Thr
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