Canonical Allele Identifier: CA123492

Gene: CBL

Linked Data

• ClinVar Variation Id: 13811
• ClinVar RCV Id: RCV000014822 ; RCV000437548 ; RCV000441724 ; RCV000691502 ; RCV001527385 ; RCV002274879 ; RCV003315401 ; RCV003387502
• dbSNP Id: rs267606706
• ExAC: 11:119148891 T / C
• gnomAD v2: 11-119148891-T-C
• gnomAD v3: 11-119278181-T-C
• gnomAD v4: 11-119278181-T-C
• COSMIC: COSM34052
• MyVariant Identifiers: chr11:g.119148891T>C (hg19) ; chr11:g.119278181T>C (hg38)
• PubMed: PMID:19571318 ; PMID:20543203 ; PMID:20694012 ; PMID:23696637

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278181T>C , CM000673.2:g.119278181T>C	GRCh38
NC_000011.9:g.119148891T>C , CM000673.1:g.119148891T>C	GRCh37
NC_000011.8:g.118654101T>C	NCBI36
NG_016808.1:g.76902T>C , LRG_608:g.76902T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.*563T>C	ENSP00000515005.1:n.*563T>C
ENST00000264033.6:c.1111T>C MANE Select	ENSP00000264033.3:p.Tyr371His
ENST00000637974.1:c.1105T>C	ENSP00000490763.1:p.Tyr369His
ENST00000264033.5:c.1111T>C	ENSP00000264033.3:p.Tyr371His
ENST00000634586.1:c.1111T>C	ENSP00000489218.1:p.Tyr371His
ENST00000634840.1:c.1111T>C	ENSP00000489324.1:p.Tyr371His
NM_005188.3:c.1111T>C , LRG_608t1:c.1111T>C	NP_005179.2:p.Tyr371His
XM_011543057.1:c.1111T>C	XP_011541359.1:p.Tyr371His
NM_005188.4:c.1111T>C MANE Select	NP_005179.2:p.Tyr371His