Canonical Allele Identifier: CA753428742
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1229469148
gnomAD v3: 22-43928725-C-T
gnomAD v4: 22-43928725-C-T
MyVariant Identifiers: chr22:g.44324605C>T (hg19) chr22:g.43928725C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928725C>T , CM000684.2:g.43928725C>T GRCh38
NC_000022.10:g.44324605C>T , CM000684.1:g.44324605C>T GRCh37
NC_000022.9:g.42655938C>T NCBI36
NG_008631.1:g.9987C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-99C>T MANE Select ENSP00000216180.3:n.421-99C>T
ENST00000216180.7:c.421-99C>T ENSP00000216180.3:n.421-99C>T
ENST00000406117.6:c.*53-99C>T ENSP00000384668.2:n.*53-99C>T
ENST00000423180.2:c.409-99C>T ENSP00000397987.2:n.409-99C>T
ENST00000478713.1:n.455-99C>T
NM_025225.2:c.421-99C>T NP_079501.2:n.421-99C>T
NM_025225.3:c.421-99C>T MANE Select NP_079501.2:n.421-99C>T
Search 100 bp 5'
Search 100 bp 3'