Canonical Allele Identifier: CA753429269

Gene: PNPLA3

Linked Data

• dbSNP Id: rs1229127654
• gnomAD v3: 22-43929167-A-G
• gnomAD v4: 22-43929167-A-G
• MyVariant Identifiers: chr22:g.44325047A>G (hg19) ; chr22:g.43929167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43929167A>G , CM000684.2:g.43929167A>G	GRCh38
NC_000022.10:g.44325047A>G , CM000684.1:g.44325047A>G	GRCh37
NC_000022.9:g.42656380A>G	NCBI36
NG_008631.1:g.10429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+278A>G MANE Select	ENSP00000216180.3:n.486+278A>G
ENST00000216180.7:c.486+278A>G	ENSP00000216180.3:n.486+278A>G
ENST00000406117.6:c.*118+278A>G	ENSP00000384668.2:n.*118+278A>G
ENST00000423180.2:c.474+278A>G	ENSP00000397987.2:n.474+278A>G
ENST00000478713.1:n.520+278A>G
NM_025225.2:c.486+278A>G	NP_079501.2:n.486+278A>G
NM_025225.3:c.486+278A>G MANE Select	NP_079501.2:n.486+278A>G