Canonical Allele Identifier: CA053475
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2923518
ClinVar RCV Id: RCV003783076
dbSNP Id: rs749915303
gnomAD v2: 2-21224615-G-T
gnomAD v3: 2-21001743-G-T
gnomAD v4: 2-21001743-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001743G>T , CM000664.2:g.21001743G>T GRCh38
NC_000002.11:g.21224615G>T , CM000664.1:g.21224615G>T GRCh37
NC_000002.10:g.21078120G>T NCBI36
NG_011793.1:g.47331C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13679C>A MANE Select ENSP00000233242.1:p.Thr4560Asn
ENST00000616098.4:c.13677C>A ENSP00000477990.1:n.13677C>A
NM_000384.2:c.13679C>A NP_000375.2:p.Thr4560Asn
XM_011532809.1:c.5870-2470C>A XP_011531111.1:n.5870-2470C>A
NM_000384.3:c.13679C>A MANE Select NP_000375.3:p.Thr4560Asn