Canonical Allele Identifier: CA411847874
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1165022892
gnomAD v3: 22-43946296-C-G
gnomAD v4: 22-43946296-C-G
MyVariant Identifiers: chr22:g.44342176C>G (hg19) chr22:g.43946296C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946296C>G , CM000684.2:g.43946296C>G GRCh38
NC_000022.10:g.44342176C>G , CM000684.1:g.44342176C>G GRCh37
NC_000022.9:g.42673509C>G NCBI36
NG_008631.1:g.27558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1360C>G MANE Select ENSP00000216180.3:p.Leu454Val
ENST00000216180.7:c.1360C>G ENSP00000216180.3:p.Leu454Val
ENST00000406117.6:c.*849+1501C>G ENSP00000384668.2:n.*849+1501C>G
ENST00000423180.2:c.1348C>G ENSP00000397987.2:p.Leu450Val
NM_025225.2:c.1360C>G NP_079501.2:p.Leu454Val
NM_025225.3:c.1360C>G MANE Select NP_079501.2:p.Leu454Val
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