Canonical Allele Identifier: CA10277926

Gene: PNPLA3

Linked Data

• ClinVar Variation Id: 341932
• ClinVar RCV Id: RCV000825505 ; RCV001539494 ; RCV004555861
• dbSNP Id: rs738409
• ExAC: 22:44324727 C / G
• gnomAD v2: 22-44324727-C-G
• gnomAD v3: 22-43928847-C-G
• gnomAD v4: 22-43928847-C-G
• MyVariant Identifiers: chr22:g.44324727C>G (hg19) ; chr22:g.43928847C>G (hg38)
• PubMed: PMID:28957414

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43928847C>G , CM000684.2:g.43928847C>G	GRCh38
NC_000022.10:g.44324727C>G , CM000684.1:g.44324727C>G	GRCh37
NC_000022.9:g.42656060C>G	NCBI36
NG_008631.1:g.10109C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.444C>G MANE Select	ENSP00000216180.3:p.Ile148Met
ENST00000216180.7:c.444C>G	ENSP00000216180.3:p.Ile148Met
ENST00000406117.6:c.*76C>G	ENSP00000384668.2:n.*76C>G
ENST00000423180.2:c.432C>G	ENSP00000397987.2:p.Ile144Met
ENST00000478713.1:n.478C>G
NM_025225.2:c.444C>G	NP_079501.2:p.Ile148Met
NM_025225.3:c.444C>G MANE Select	NP_079501.2:p.Ile148Met