Canonical Allele Identifier: CA345971040

Gene: APOB

Linked Data

• ClinVar Variation Id: 2185701
• ClinVar RCV Id: RCV002596279 ; RCV003161959
• dbSNP Id: rs1458728752
• gnomAD v2: 2-21225764-C-T
• gnomAD v3: 2-21002892-C-T
• gnomAD v4: 2-21002892-C-T
• COSMIC: COSM4903266
• MyVariant Identifiers: chr2:g.21225764C>T (hg19) ; chr2:g.21002892C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002892C>T , CM000664.2:g.21002892C>T	GRCh38
NC_000002.11:g.21225764C>T , CM000664.1:g.21225764C>T	GRCh37
NC_000002.10:g.21079269C>T	NCBI36
NG_011793.1:g.46182G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.12530G>A MANE Select	ENSP00000233242.1:p.Arg4177Gln
ENST00000616098.4:c.12530G>A	ENSP00000477990.1:p.Arg4177Gln
NM_000384.2:c.12530G>A	NP_000375.2:p.Arg4177Gln
XM_011532809.1:c.5870-3619G>A	XP_011531111.1:n.5870-3619G>A
NM_000384.3:c.12530G>A MANE Select	NP_000375.3:p.Arg4177Gln