Canonical Allele Identifier: CA2407481344
Gene: PNPLA3 HGNC NCBI

Linked Data

dbSNP Id: rs1569009806

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43928628C>T , CM000684.2:g.43928628C>T GRCh38
NC_000022.10:g.44324508C>T , CM000684.1:g.44324508C>T GRCh37
NC_000022.9:g.42655841C>T NCBI36
NG_008631.1:g.9890C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.421-196C>T MANE Select ENSP00000216180.3:n.421-196C>T
ENST00000216180.7:c.421-196C>T ENSP00000216180.3:n.421-196C>T
ENST00000406117.6:c.*53-196C>T ENSP00000384668.2:n.*53-196C>T
ENST00000423180.2:c.409-196C>T ENSP00000397987.2:n.409-196C>T
ENST00000478713.1:n.455-196C>T
NM_025225.2:c.421-196C>T NP_079501.2:n.421-196C>T
NM_025225.3:c.421-196C>T MANE Select NP_079501.2:n.421-196C>T