Canonical Allele Identifier: CA324876724
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs567090085
gnomAD v3: 22-43928863-C-T
gnomAD v4: 22-43928863-C-T
MyVariant Identifiers: chr22:g.44324743C>T (hg19) chr22:g.43928863C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928863C>T , CM000684.2:g.43928863C>T GRCh38
NC_000022.10:g.44324743C>T , CM000684.1:g.44324743C>T GRCh37
NC_000022.9:g.42656076C>T NCBI36
NG_008631.1:g.10125C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.460C>T MANE Select ENSP00000216180.3:p.Leu154Phe
ENST00000216180.7:c.460C>T ENSP00000216180.3:p.Leu154Phe
ENST00000406117.6:c.*92C>T ENSP00000384668.2:n.*92C>T
ENST00000423180.2:c.448C>T ENSP00000397987.2:p.Leu150Phe
ENST00000478713.1:n.494C>T
NM_025225.2:c.460C>T NP_079501.2:p.Leu154Phe
NM_025225.3:c.460C>T MANE Select NP_079501.2:p.Leu154Phe
Search 100 bp 5'
Search 100 bp 3'