Canonical Allele Identifier: CA411860135
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2146776427
MyVariant Identifiers: chr22:g.44324724C>G (hg19) chr22:g.43928844C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928844C>G , CM000684.2:g.43928844C>G GRCh38
NC_000022.10:g.44324724C>G , CM000684.1:g.44324724C>G GRCh37
NC_000022.9:g.42656057C>G NCBI36
NG_008631.1:g.10106C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.441C>G MANE Select ENSP00000216180.3:p.Phe147Leu
ENST00000216180.7:c.441C>G ENSP00000216180.3:p.Phe147Leu
ENST00000406117.6:c.*73C>G ENSP00000384668.2:n.*73C>G
ENST00000423180.2:c.429C>G ENSP00000397987.2:p.Phe143Leu
ENST00000478713.1:n.475C>G
NM_025225.2:c.441C>G NP_079501.2:p.Phe147Leu
NM_025225.3:c.441C>G MANE Select NP_079501.2:p.Phe147Leu
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