Canonical Allele Identifier: CA2657156675
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776156
gnomAD v4: 22-43928756-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928756C>G , CM000684.2:g.43928756C>G GRCh38
NC_000022.10:g.44324636C>G , CM000684.1:g.44324636C>G GRCh37
NC_000022.9:g.42655969C>G NCBI36
NG_008631.1:g.10018C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-68C>G MANE Select ENSP00000216180.3:n.421-68C>G
ENST00000216180.7:c.421-68C>G ENSP00000216180.3:n.421-68C>G
ENST00000406117.6:c.*53-68C>G ENSP00000384668.2:n.*53-68C>G
ENST00000423180.2:c.409-68C>G ENSP00000397987.2:n.409-68C>G
ENST00000478713.1:n.455-68C>G
NM_025225.2:c.421-68C>G NP_079501.2:n.421-68C>G
NM_025225.3:c.421-68C>G MANE Select NP_079501.2:n.421-68C>G
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