Canonical Allele Identifier: CA10278139
Gene: PNPLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 341939
ClinVar RCV Id: RCV000363832
dbSNP Id: rs781212740
ExAC: 22:44335859 A / C
gnomAD v2: 22-44335859-A-C
gnomAD v3: 22-43939979-A-C
gnomAD v4: 22-43939979-A-C
MyVariant Identifiers: chr22:g.44335859A>C (hg19) chr22:g.43939979A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43939979A>C , CM000684.2:g.43939979A>C GRCh38
NC_000022.10:g.44335859A>C , CM000684.1:g.44335859A>C GRCh37
NC_000022.9:g.42667192A>C NCBI36
NG_008631.1:g.21241A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.980-14A>C MANE Select ENSP00000216180.3:n.980-14A>C
ENST00000216180.7:c.980-14A>C ENSP00000216180.3:n.980-14A>C
ENST00000406117.6:c.*612-14A>C ENSP00000384668.2:n.*612-14A>C
ENST00000423180.2:c.968-14A>C ENSP00000397987.2:n.968-14A>C
NM_025225.2:c.980-14A>C NP_079501.2:n.980-14A>C
NM_025225.3:c.980-14A>C MANE Select NP_079501.2:n.980-14A>C
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