Canonical Allele Identifier: CA639583150
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v2: 22-44324605-C-G
gnomAD v3: 22-43928725-C-G
gnomAD v4: 22-43928725-C-G
MyVariant Identifiers: chr22:g.44324605_44324608delinsGAAG (hg19) chr22:g.43928725_43928728delinsGAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928725C>G , CM000684.2:g.43928725C>G GRCh38
NC_000022.10:g.44324605C>G , CM000684.1:g.44324605C>G GRCh37
NC_000022.9:g.42655938C>G NCBI36
NG_008631.1:g.9987C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-99C>G MANE Select ENSP00000216180.3:n.421-99C>G
ENST00000216180.7:c.421-99C>G ENSP00000216180.3:n.421-99C>G
ENST00000406117.6:c.*53-99C>G ENSP00000384668.2:n.*53-99C>G
ENST00000423180.2:c.409-99C>G ENSP00000397987.2:n.409-99C>G
ENST00000478713.1:n.455-99C>G
NM_025225.2:c.421-99C>G NP_079501.2:n.421-99C>G
NM_025225.3:c.421-99C>G MANE Select NP_079501.2:n.421-99C>G
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