Canonical Allele Identifier: CA10278264
Gene: PNPLA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 341945
ClinVar RCV Id: RCV000389671
dbSNP Id: rs6006460

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946294G>T , CM000684.2:g.43946294G>T GRCh38
NC_000022.10:g.44342174G>T , CM000684.1:g.44342174G>T GRCh37
NC_000022.9:g.42673507G>T NCBI36
NG_008631.1:g.27556G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1358G>T MANE Select ENSP00000216180.3:p.Ser453Ile
ENST00000216180.7:c.1358G>T ENSP00000216180.3:p.Ser453Ile
ENST00000406117.6:c.*849+1499G>T ENSP00000384668.2:n.*849+1499G>T
ENST00000423180.2:c.1346G>T ENSP00000397987.2:p.Ser449Ile
NM_025225.2:c.1358G>T NP_079501.2:p.Ser453Ile
NM_025225.3:c.1358G>T MANE Select NP_079501.2:p.Ser453Ile