Canonical Allele Identifier: CA345997481
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 3127916
ClinVar RCV Id: RCV004417749
dbSNP Id: rs1663248267
gnomAD v4: 2-21009579-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21009579A>T , CM000664.2:g.21009579A>T GRCh38
NC_000002.11:g.21232451A>T , CM000664.1:g.21232451A>T GRCh37
NC_000002.10:g.21085956A>T NCBI36
NG_011793.1:g.39495T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.7289T>A MANE Select ENSP00000233242.1:p.Phe2430Tyr
ENST00000616098.4:c.7289T>A ENSP00000477990.1:p.Phe2430Tyr
NM_000384.2:c.7289T>A NP_000375.2:p.Phe2430Tyr
XM_011532809.1:c.5869+1154T>A XP_011531111.1:n.5869+1154T>A
NM_000384.3:c.7289T>A MANE Select NP_000375.3:p.Phe2430Tyr