Canonical Allele Identifier: CA411847869
Gene: PNPLA3 HGNC NCBI

Linked Data

gnomAD v4: 22-43946295-C-A
MyVariant Identifiers: chr22:g.44342175C>A (hg19) chr22:g.43946295C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946295C>A , CM000684.2:g.43946295C>A GRCh38
NC_000022.10:g.44342175C>A , CM000684.1:g.44342175C>A GRCh37
NC_000022.9:g.42673508C>A NCBI36
NG_008631.1:g.27557C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1359C>A MANE Select ENSP00000216180.3:p.Ser453Arg
ENST00000216180.7:c.1359C>A ENSP00000216180.3:p.Ser453Arg
ENST00000406117.6:c.*849+1500C>A ENSP00000384668.2:n.*849+1500C>A
ENST00000423180.2:c.1347C>A ENSP00000397987.2:p.Ser449Arg
NM_025225.2:c.1359C>A NP_079501.2:p.Ser453Arg
NM_025225.3:c.1359C>A MANE Select NP_079501.2:p.Ser453Arg
Search 100 bp 5'
Search 100 bp 3'