Canonical Allele Identifier: CA411860205
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1208032174
gnomAD v2: 22-44324756-C-T
gnomAD v4: 22-43928876-C-T
COSMIC: COSM5718830
MyVariant Identifiers: chr22:g.44324756C>T (hg19) chr22:g.43928876C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928876C>T , CM000684.2:g.43928876C>T GRCh38
NC_000022.10:g.44324756C>T , CM000684.1:g.44324756C>T GRCh37
NC_000022.9:g.42656089C>T NCBI36
NG_008631.1:g.10138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.473C>T MANE Select ENSP00000216180.3:p.Ser158Phe
ENST00000216180.7:c.473C>T ENSP00000216180.3:p.Ser158Phe
ENST00000406117.6:c.*105C>T ENSP00000384668.2:n.*105C>T
ENST00000423180.2:c.461C>T ENSP00000397987.2:p.Ser154Phe
ENST00000478713.1:n.507C>T
NM_025225.2:c.473C>T NP_079501.2:p.Ser158Phe
NM_025225.3:c.473C>T MANE Select NP_079501.2:p.Ser158Phe
Search 100 bp 5'
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