Canonical Allele Identifier: CA345970286
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1663014493
gnomAD v4: 2-21002542-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002542C>G , CM000664.2:g.21002542C>G GRCh38
NC_000002.11:g.21225414C>G , CM000664.1:g.21225414C>G GRCh37
NC_000002.10:g.21078919C>G NCBI36
NG_011793.1:g.46532G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12880G>C MANE Select ENSP00000233242.1:p.Glu4294Gln
ENST00000616098.4:c.12880G>C ENSP00000477990.1:p.Glu4294Gln
NM_000384.2:c.12880G>C NP_000375.2:p.Glu4294Gln
XM_011532809.1:c.5870-3269G>C XP_011531111.1:n.5870-3269G>C
NM_000384.3:c.12880G>C MANE Select NP_000375.3:p.Glu4294Gln