Canonical Allele Identifier: CA753428695
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1211504731
gnomAD v3: 22-43928682-C-CT
gnomAD v4: 22-43928682-C-CT
MyVariant Identifiers: chr22:g.44324562_44324563insT (hg19) chr22:g.43928682_43928683insT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928686dup , CM000684.2:g.43928686dup GRCh38
NC_000022.10:g.44324566dup , CM000684.1:g.44324566dup GRCh37
NC_000022.9:g.42655899dup NCBI36
NG_008631.1:g.9948dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-138dup MANE Select ENSP00000216180.3:n.421-138dup
ENST00000216180.7:c.421-138dup ENSP00000216180.3:n.421-138dup
ENST00000406117.6:c.*53-138dup ENSP00000384668.2:n.*53-138dup
ENST00000423180.2:c.409-138dup ENSP00000397987.2:n.409-138dup
ENST00000478713.1:n.455-138dup
NM_025225.2:c.421-138dup NP_079501.2:n.421-138dup
NM_025225.3:c.421-138dup MANE Select NP_079501.2:n.421-138dup
Search 100 bp 5'
Search 100 bp 3'