Canonical Allele Identifier: CA1026101484
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs2049952003
gnomAD v3: 22-43930042-T-C
gnomAD v4: 22-43930042-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43930042T>C , CM000684.2:g.43930042T>C GRCh38
NC_000022.10:g.44325922T>C , CM000684.1:g.44325922T>C GRCh37
NC_000022.9:g.42657255T>C NCBI36
NG_008631.1:g.11304T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.486+1153T>C MANE Select ENSP00000216180.3:n.486+1153T>C
ENST00000216180.7:c.486+1153T>C ENSP00000216180.3:n.486+1153T>C
ENST00000406117.6:c.*118+1153T>C ENSP00000384668.2:n.*118+1153T>C
ENST00000423180.2:c.474+1153T>C ENSP00000397987.2:n.474+1153T>C
ENST00000478713.1:n.520+1153T>C
NM_025225.2:c.486+1153T>C NP_079501.2:n.486+1153T>C
NM_025225.3:c.486+1153T>C MANE Select NP_079501.2:n.486+1153T>C
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