Canonical Allele Identifier: CA10278241
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs374810102
ExAC: 22:44342080 G / C
gnomAD v2: 22-44342080-G-C
gnomAD v3: 22-43946200-G-C
gnomAD v4: 22-43946200-G-C
MyVariant Identifiers: chr22:g.44342080G>C (hg19) chr22:g.43946200G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946200G>C , CM000684.2:g.43946200G>C GRCh38
NC_000022.10:g.44342080G>C , CM000684.1:g.44342080G>C GRCh37
NC_000022.9:g.42673413G>C NCBI36
NG_008631.1:g.27462G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000216180.8:c.1264G>C MANE Select ENSP00000216180.3:p.Glu422Gln
ENST00000216180.7:c.1264G>C ENSP00000216180.3:p.Glu422Gln
ENST00000406117.6:c.*849+1405G>C ENSP00000384668.2:n.*849+1405G>C
ENST00000423180.2:c.1252G>C ENSP00000397987.2:p.Glu418Gln
NM_025225.2:c.1264G>C NP_079501.2:p.Glu422Gln
NM_025225.3:c.1264G>C MANE Select NP_079501.2:p.Glu422Gln
Search 100 bp 5'
Search 100 bp 3'