Canonical Allele Identifier: CA2657154859
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946476-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946476C>A , CM000684.2:g.43946476C>A GRCh38
NC_000022.10:g.44342356C>A , CM000684.1:g.44342356C>A GRCh37
NC_000022.9:g.42673689C>A NCBI36
NG_008631.1:g.27738C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*94C>A MANE Select ENSP00000216180.3:n.*94C>A
ENST00000216180.7:c.*94C>A ENSP00000216180.3:n.*94C>A
ENST00000406117.6:c.*849+1681C>A ENSP00000384668.2:n.*849+1681C>A
ENST00000423180.2:c.*94C>A ENSP00000397987.2:n.*94C>A
NM_025225.2:c.*94C>A NP_079501.2:n.*94C>A
NM_025225.3:c.*94C>A MANE Select NP_079501.2:n.*94C>A
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