Canonical Allele Identifier: CA411848028
Gene: PNPLA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.43946336A>T , CM000684.2:g.43946336A>T GRCh38
NC_000022.10:g.44342216A>T , CM000684.1:g.44342216A>T GRCh37
NC_000022.9:g.42673549A>T NCBI36
NG_008631.1:g.27598A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000216180.8:c.1400A>T MANE Select ENSP00000216180.3:p.Glu467Val
ENST00000216180.7:c.1400A>T ENSP00000216180.3:p.Glu467Val
ENST00000406117.6:c.*849+1541A>T ENSP00000384668.2:n.*849+1541A>T
ENST00000423180.2:c.1388A>T ENSP00000397987.2:p.Glu463Val
NM_025225.2:c.1400A>T NP_079501.2:p.Glu467Val
NM_025225.3:c.1400A>T MANE Select NP_079501.2:p.Glu467Val