Canonical Allele Identifier: CA065210
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 237751
dbSNP Id: rs6413458
gnomAD v2: 2-21231592-G-A
gnomAD v3: 2-21008720-G-A
gnomAD v4: 2-21008720-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21008720G>A , CM000664.2:g.21008720G>A GRCh38
NC_000002.11:g.21231592G>A , CM000664.1:g.21231592G>A GRCh37
NC_000002.10:g.21085097G>A NCBI36
NG_011793.1:g.40354C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.8148C>T MANE Select ENSP00000233242.1:p.Ile2716=
ENST00000616098.4:c.8148C>T ENSP00000477990.1:p.Ile2716=
NM_000384.2:c.8148C>T NP_000375.2:p.Ile2716=
XM_011532809.1:c.5869+2013C>T XP_011531111.1:n.5869+2013C>T
NM_000384.3:c.8148C>T MANE Select NP_000375.3:p.Ile2716=