Canonical Allele Identifier: CA345967755
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1282168170
gnomAD v2: 2-21224996-G-A
gnomAD v4: 2-21002124-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002124G>A , CM000664.2:g.21002124G>A GRCh38
NC_000002.11:g.21224996G>A , CM000664.1:g.21224996G>A GRCh37
NC_000002.10:g.21078501G>A NCBI36
NG_011793.1:g.46950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13298C>T MANE Select ENSP00000233242.1:p.Thr4433Ile
ENST00000616098.4:c.13296C>T ENSP00000477990.1:n.13296C>T
NM_000384.2:c.13298C>T NP_000375.2:p.Thr4433Ile
XM_011532809.1:c.5870-2851C>T XP_011531111.1:n.5870-2851C>T
NM_000384.3:c.13298C>T MANE Select NP_000375.3:p.Thr4433Ile