Canonical Allele Identifier: CA042559
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs756605874
gnomAD v2: 2-21229596-C-G
gnomAD v3: 2-21006724-C-G
gnomAD v4: 2-21006724-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006724C>G , CM000664.2:g.21006724C>G GRCh38
NC_000002.11:g.21229596C>G , CM000664.1:g.21229596C>G GRCh37
NC_000002.10:g.21083101C>G NCBI36
NG_011793.1:g.42350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.10144G>C MANE Select ENSP00000233242.1:p.Glu3382Gln
ENST00000616098.4:c.10144G>C ENSP00000477990.1:p.Glu3382Gln
NM_000384.2:c.10144G>C NP_000375.2:p.Glu3382Gln
XM_011532809.1:c.5869+4009G>C XP_011531111.1:n.5869+4009G>C
NM_000384.3:c.10144G>C MANE Select NP_000375.3:p.Glu3382Gln