Canonical Allele Identifier: CA10277894
Gene: PNPLA3 HGNC NCBI
ClinVar RCV:
RCV004250716
ClinVar Variation:
2457810
COSMIC:
COSM4716225
dbSNP:
375342777
gnomAD v2:
22:44323024 C / T
gnomAD v3:
22:43927144 C / T
gnomAD v4:
chr22-43927144-C-T
Joint Max Group AF 0.00003471 (AFR)
Genomes Max Group AF 0.00003248 (AFR)
Exomes Max Group AF 0.00000989 (AFR)
MyVariant.info:
GRCh38 chr22:g.43927144C>T
GRCh37 chr22:g.44323024C>T
Revel Score:
ENST00000216180 (MANE Select) 0.070
ENST00000423180 0.070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43927144C>T , CM000684.2:g.43927144C>T GRCh38
NC_000022.10:g.44323024C>T , CM000684.1:g.44323024C>T GRCh37
NC_000022.9:g.42654357C>T NCBI36
NG_008631.1:g.8406C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.397C>T MANE Select ENSP00000216180.3:p.Arg133Trp
ENST00000216180.7:c.397C>T ENSP00000216180.3:p.Arg133Trp
ENST00000406117.6:c.*29C>T ENSP00000384668.2:n.*29C>T
ENST00000423180.2:c.385C>T ENSP00000397987.2:p.Arg129Trp
ENST00000478713.1:n.431C>T
NM_025225.2:c.397C>T NP_079501.2:p.Arg133Trp
NM_025225.3:c.397C>T MANE Select NP_079501.2:p.Arg133Trp
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