Canonical Allele Identifier: CA128668

Gene: CBL

Linked Data

• ClinVar Variation Id: 29823
• ClinVar RCV Id: RCV000022699 ; RCV000157860 ; RCV002513172
• dbSNP Id: rs387906665
• ExAC: 11:119148966 T / C
• gnomAD v2: 11-119148966-T-C
• gnomAD v4: 11-119278256-T-C
• COSMIC: COSM34058
• MyVariant Identifiers: chr11:g.119148966T>C (hg19) ; chr11:g.119278256T>C (hg38)
• PubMed: PMID:20694012

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278256T>C , CM000673.2:g.119278256T>C	GRCh38
NC_000011.9:g.119148966T>C , CM000673.1:g.119148966T>C	GRCh37
NC_000011.8:g.118654176T>C	NCBI36
NG_016808.1:g.76977T>C , LRG_608:g.76977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*638T>C	ENSP00000515005.1:n.*638T>C
ENST00000264033.6:c.1186T>C MANE Select	ENSP00000264033.3:p.Cys396Arg
ENST00000637974.1:c.1180T>C	ENSP00000490763.1:p.Cys394Arg
ENST00000264033.5:c.1186T>C	ENSP00000264033.3:p.Cys396Arg
ENST00000634586.1:c.1186T>C	ENSP00000489218.1:p.Cys396Arg
ENST00000634840.1:c.1186T>C	ENSP00000489324.1:p.Cys396Arg
NM_005188.3:c.1186T>C , LRG_608t1:c.1186T>C	NP_005179.2:p.Cys396Arg
XM_011543057.1:c.1186T>C	XP_011541359.1:p.Cys396Arg
NM_005188.4:c.1186T>C MANE Select	NP_005179.2:p.Cys396Arg