Canonical Allele Identifier: CA324876991

Gene: PNPLA3

Linked Data

• dbSNP Id: rs911160859
• gnomAD v3: 22-43930020-C-G
• gnomAD v4: 22-43930020-C-G
• MyVariant Identifiers: chr22:g.44325900C>G (hg19) ; chr22:g.43930020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43930020C>G , CM000684.2:g.43930020C>G	GRCh38
NC_000022.10:g.44325900C>G , CM000684.1:g.44325900C>G	GRCh37
NC_000022.9:g.42657233C>G	NCBI36
NG_008631.1:g.11282C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216180.8:c.486+1131C>G MANE Select	ENSP00000216180.3:n.486+1131C>G
ENST00000216180.7:c.486+1131C>G	ENSP00000216180.3:n.486+1131C>G
ENST00000406117.6:c.*118+1131C>G	ENSP00000384668.2:n.*118+1131C>G
ENST00000423180.2:c.474+1131C>G	ENSP00000397987.2:n.474+1131C>G
ENST00000478713.1:n.520+1131C>G
NM_025225.2:c.486+1131C>G	NP_079501.2:n.486+1131C>G
NM_025225.3:c.486+1131C>G MANE Select	NP_079501.2:n.486+1131C>G