Canonical Allele Identifier: CA2657154875
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946492-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946492G>C , CM000684.2:g.43946492G>C GRCh38
NC_000022.10:g.44342372G>C , CM000684.1:g.44342372G>C GRCh37
NC_000022.9:g.42673705G>C NCBI36
NG_008631.1:g.27754G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*110G>C MANE Select ENSP00000216180.3:n.*110G>C
ENST00000216180.7:c.*110G>C ENSP00000216180.3:n.*110G>C
ENST00000406117.6:c.*849+1697G>C ENSP00000384668.2:n.*849+1697G>C
ENST00000423180.2:c.*110G>C ENSP00000397987.2:n.*110G>C
NM_025225.2:c.*110G>C NP_079501.2:n.*110G>C
NM_025225.3:c.*110G>C MANE Select NP_079501.2:n.*110G>C
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