Canonical Allele Identifier: CA43496915
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2340063
ClinVar RCV Id: RCV004182933
dbSNP Id: rs907962079
gnomAD v2: 2-21229910-G-A
gnomAD v3: 2-21007038-G-A
gnomAD v4: 2-21007038-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007038G>A , CM000664.2:g.21007038G>A GRCh38
NC_000002.11:g.21229910G>A , CM000664.1:g.21229910G>A GRCh37
NC_000002.10:g.21083415G>A NCBI36
NG_011793.1:g.42036C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9830C>T MANE Select ENSP00000233242.1:p.Ala3277Val
ENST00000616098.4:c.9830C>T ENSP00000477990.1:p.Ala3277Val
NM_000384.2:c.9830C>T NP_000375.2:p.Ala3277Val
XM_011532809.1:c.5869+3695C>T XP_011531111.1:n.5869+3695C>T
NM_000384.3:c.9830C>T MANE Select NP_000375.3:p.Ala3277Val