Canonical Allele Identifier: CA10278292

Gene: PNPLA3

Linked Data

• dbSNP Id: rs6006461
• ExAC: 22:44342313 C / G
• gnomAD v2: 22-44342313-C-G
• gnomAD v3: 22-43946433-C-G
• gnomAD v4: 22-43946433-C-G
• MyVariant Identifiers: chr22:g.44342313C>G (hg19) ; chr22:g.43946433C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43946433C>G , CM000684.2:g.43946433C>G	GRCh38
NC_000022.10:g.44342313C>G , CM000684.1:g.44342313C>G	GRCh37
NC_000022.9:g.42673646C>G	NCBI36
NG_008631.1:g.27695C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.*51C>G MANE Select	ENSP00000216180.3:n.*51C>G
ENST00000216180.7:c.*51C>G	ENSP00000216180.3:n.*51C>G
ENST00000406117.6:c.*849+1638C>G	ENSP00000384668.2:n.*849+1638C>G
ENST00000423180.2:c.*51C>G	ENSP00000397987.2:n.*51C>G
NM_025225.2:c.*51C>G	NP_079501.2:n.*51C>G
NM_025225.3:c.*51C>G MANE Select	NP_079501.2:n.*51C>G