Canonical Allele Identifier: CA1026101480

Gene: PNPLA3

Linked Data

• dbSNP Id: rs1734030622
• gnomAD v3: 22-43930033-T-C
• gnomAD v4: 22-43930033-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43930033T>C , CM000684.2:g.43930033T>C	GRCh38
NC_000022.10:g.44325913T>C , CM000684.1:g.44325913T>C	GRCh37
NC_000022.9:g.42657246T>C	NCBI36
NG_008631.1:g.11295T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216180.8:c.486+1144T>C MANE Select	ENSP00000216180.3:n.486+1144T>C
ENST00000216180.7:c.486+1144T>C	ENSP00000216180.3:n.486+1144T>C
ENST00000406117.6:c.*118+1144T>C	ENSP00000384668.2:n.*118+1144T>C
ENST00000423180.2:c.474+1144T>C	ENSP00000397987.2:n.474+1144T>C
ENST00000478713.1:n.520+1144T>C
NM_025225.2:c.486+1144T>C	NP_079501.2:n.486+1144T>C
NM_025225.3:c.486+1144T>C MANE Select	NP_079501.2:n.486+1144T>C