Canonical Allele Identifier: CA10278289
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs373173858
ExAC: 22:44342292 C / G
gnomAD v2: 22-44342292-C-G
gnomAD v3: 22-43946412-C-G
gnomAD v4: 22-43946412-C-G
MyVariant Identifiers: chr22:g.44342292C>G (hg19) chr22:g.43946412C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946412C>G , CM000684.2:g.43946412C>G GRCh38
NC_000022.10:g.44342292C>G , CM000684.1:g.44342292C>G GRCh37
NC_000022.9:g.42673625C>G NCBI36
NG_008631.1:g.27674C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.*30C>G MANE Select ENSP00000216180.3:n.*30C>G
ENST00000216180.7:c.*30C>G ENSP00000216180.3:n.*30C>G
ENST00000406117.6:c.*849+1617C>G ENSP00000384668.2:n.*849+1617C>G
ENST00000423180.2:c.*30C>G ENSP00000397987.2:n.*30C>G
NM_025225.2:c.*30C>G NP_079501.2:n.*30C>G
NM_025225.3:c.*30C>G MANE Select NP_079501.2:n.*30C>G
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