Canonical Allele Identifier: CA123490

Gene: CBL

Linked Data

• ClinVar Variation Id: 13810
• ClinVar RCV Id: RCV000014821 ; RCV000414703 ; RCV000816470 ; RCV001257538 ; RCV001705593 ; RCV003447475
• dbSNP Id: rs267606708
• ExAC: 11:119149251 G / A
• gnomAD v2: 11-119149251-G-A
• gnomAD v3: 11-119278541-G-A
• gnomAD v4: 11-119278541-G-A
• COSMIC: COSM34077
• MyVariant Identifiers: chr11:g.119149251G>A (hg19) ; chr11:g.119278541G>A (hg38)
• PubMed: PMID:20619386

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278541G>A , CM000673.2:g.119278541G>A	GRCh38
NC_000011.9:g.119149251G>A , CM000673.1:g.119149251G>A	GRCh37
NC_000011.8:g.118654461G>A	NCBI36
NG_016808.1:g.77262G>A , LRG_608:g.77262G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*711G>A	ENSP00000515005.1:n.*711G>A
ENST00000264033.6:c.1259G>A MANE Select	ENSP00000264033.3:p.Arg420Gln
ENST00000637974.1:c.1253G>A	ENSP00000490763.1:p.Arg418Gln
ENST00000264033.5:c.1259G>A	ENSP00000264033.3:p.Arg420Gln
ENST00000634586.1:c.1259G>A	ENSP00000489218.1:p.Arg420Gln
ENST00000634840.1:c.1259G>A	ENSP00000489324.1:p.Arg420Gln
NM_005188.3:c.1259G>A , LRG_608t1:c.1259G>A	NP_005179.2:p.Arg420Gln
XM_011543057.1:c.1259G>A	XP_011541359.1:p.Arg420Gln
NM_005188.4:c.1259G>A MANE Select	NP_005179.2:p.Arg420Gln