Canonical Allele Identifier: CA064354
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2948657
ClinVar RCV Id: RCV003809431
dbSNP Id: rs200783423
gnomAD v3: 2-21009496-C-T
gnomAD v4: 2-21009496-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009496C>T , CM000664.2:g.21009496C>T GRCh38
NC_000002.11:g.21232368C>T , CM000664.1:g.21232368C>T GRCh37
NC_000002.10:g.21085873C>T NCBI36
NG_011793.1:g.39578G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7372G>A MANE Select ENSP00000233242.1:p.Glu2458Lys
ENST00000616098.4:c.7372G>A ENSP00000477990.1:p.Glu2458Lys
NM_000384.2:c.7372G>A NP_000375.2:p.Glu2458Lys
XM_011532809.1:c.5869+1237G>A XP_011531111.1:n.5869+1237G>A
NM_000384.3:c.7372G>A MANE Select NP_000375.3:p.Glu2458Lys