Canonical Allele Identifier: CA2407489716
Gene: PNPLA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946337G= , CM000684.2:g.43946337G= GRCh38
NC_000022.10:g.44342217G= , CM000684.1:g.44342217G= GRCh37
NC_000022.9:g.42673550G= NCBI36
NG_008631.1:g.27599G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1401G= MANE Select ENSP00000216180.3:p.Glu467=
ENST00000216180.7:c.1401G= ENSP00000216180.3:p.Glu467=
ENST00000406117.6:c.*849+1542G= ENSP00000384668.2:n.*849+1542G=
ENST00000423180.2:c.1389G= ENSP00000397987.2:p.Glu463=
NM_025225.2:c.1401G= NP_079501.2:p.Glu467=
NM_025225.3:c.1401G= MANE Select NP_079501.2:p.Glu467=