Canonical Allele Identifier: CA411847445
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946176-C-G
MyVariant Identifiers: chr22:g.44342056C>G (hg19) chr22:g.43946176C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946176C>G , CM000684.2:g.43946176C>G GRCh38
NC_000022.10:g.44342056C>G , CM000684.1:g.44342056C>G GRCh37
NC_000022.9:g.42673389C>G NCBI36
NG_008631.1:g.27438C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1240C>G MANE Select ENSP00000216180.3:p.Gln414Glu
ENST00000216180.7:c.1240C>G ENSP00000216180.3:p.Gln414Glu
ENST00000406117.6:c.*849+1381C>G ENSP00000384668.2:n.*849+1381C>G
ENST00000423180.2:c.1228C>G ENSP00000397987.2:p.Gln410Glu
NM_025225.2:c.1240C>G NP_079501.2:p.Gln414Glu
NM_025225.3:c.1240C>G MANE Select NP_079501.2:p.Gln414Glu
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