Canonical Allele Identifier: CA10277744
Gene: PNPLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 341924
ClinVar RCV Id: RCV000327719
dbSNP Id: rs773713393
ExAC: 22:44319748 C / G
gnomAD v2: 22-44319748-C-G
gnomAD v3: 22-43923868-C-G
gnomAD v4: 22-43923868-C-G
MyVariant Identifiers: chr22:g.44319748C>G (hg19) chr22:g.43923868C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43923868C>G , CM000684.2:g.43923868C>G GRCh38
NC_000022.10:g.44319748C>G , CM000684.1:g.44319748C>G GRCh37
NC_000022.9:g.42651081C>G NCBI36
NG_008631.1:g.5130C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.-44C>G MANE Select ENSP00000216180.3:n.-44C>G
ENST00000216180.7:c.-44C>G ENSP00000216180.3:n.-44C>G
ENST00000406117.6:c.-44C>G ENSP00000384668.2:n.-44C>G
ENST00000423180.2:c.-44C>G ENSP00000397987.2:n.-44C>G
NM_025225.2:c.-44C>G NP_079501.2:n.-44C>G
NM_025225.3:c.-44C>G MANE Select NP_079501.2:n.-44C>G
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