Canonical Allele Identifier: CA10278269
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs557141181
ExAC: 22:44342180 A / G
gnomAD v2: 22-44342180-A-G
gnomAD v3: 22-43946300-A-G
gnomAD v4: 22-43946300-A-G
COSMIC: COSM3062509
MyVariant Identifiers: chr22:g.44342180A>G (hg19) chr22:g.44342180_44342183delinsGCTT (hg19) chr22:g.43946300A>G (hg38) chr22:g.43946300_43946303delinsGCTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946300A>G , CM000684.2:g.43946300A>G GRCh38
NC_000022.10:g.44342180A>G , CM000684.1:g.44342180A>G GRCh37
NC_000022.9:g.42673513A>G NCBI36
NG_008631.1:g.27562A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1364A>G MANE Select ENSP00000216180.3:p.Asn455Ser
ENST00000216180.7:c.1364A>G ENSP00000216180.3:p.Asn455Ser
ENST00000406117.6:c.*849+1505A>G ENSP00000384668.2:n.*849+1505A>G
ENST00000423180.2:c.1352A>G ENSP00000397987.2:p.Asn451Ser
NM_025225.2:c.1364A>G NP_079501.2:p.Asn455Ser
NM_025225.3:c.1364A>G MANE Select NP_079501.2:p.Asn455Ser
Search 100 bp 5'
Search 100 bp 3'