Canonical Allele Identifier: CA051437

Gene: APOB

Linked Data

• ClinVar Variation Id: 920530
• ClinVar RCV Id: RCV002497626 ; RCV002379695
• dbSNP Id: rs761260344
• ExAC: 2:21225405 G / A
• gnomAD v2: 2-21225405-G-A
• gnomAD v3: 2-21002533-G-A
• gnomAD v4: 2-21002533-G-A
• MyVariant Identifiers: chr2:g.21225405G>A (hg19) ; chr2:g.21002533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21002533G>A , CM000664.2:g.21002533G>A	GRCh38
NC_000002.11:g.21225405G>A , CM000664.1:g.21225405G>A	GRCh37
NC_000002.10:g.21078910G>A	NCBI36
NG_011793.1:g.46541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233242.5:c.12889C>T MANE Select	ENSP00000233242.1:p.Arg4297Cys
ENST00000616098.4:c.12889C>T	ENSP00000477990.1:p.Arg4297Cys
NM_000384.2:c.12889C>T	NP_000375.2:p.Arg4297Cys
XM_011532809.1:c.5870-3260C>T	XP_011531111.1:n.5870-3260C>T
NM_000384.3:c.12889C>T MANE Select	NP_000375.3:p.Arg4297Cys