Canonical Allele Identifier: CA6318645

Gene: CBL

Linked Data

• ClinVar Variation Id: 280204
• ClinVar RCV Id: RCV000361702 ; RCV001192739 ; RCV001813442 ; RCV004021064 ; RCV001089369
• dbSNP Id: rs143264567
• ExAC: 11:119158562 A / C
• gnomAD v2: 11-119158562-A-C
• gnomAD v3: 11-119287852-A-C
• gnomAD v4: 11-119287852-A-C
• MyVariant Identifiers: chr11:g.119158562A>C (hg19) ; chr11:g.119287852A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119287852A>C , CM000673.2:g.119287852A>C	GRCh38
NC_000011.9:g.119158562A>C , CM000673.1:g.119158562A>C	GRCh37
NC_000011.8:g.118663772A>C	NCBI36
NG_016808.1:g.86573A>C , LRG_608:g.86573A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*1394A>C	ENSP00000515005.1:n.*1394A>C
ENST00000264033.6:c.1942A>C MANE Select	ENSP00000264033.3:p.Ser648Arg
ENST00000637974.1:c.1936A>C	ENSP00000490763.1:p.Ser646Arg
ENST00000264033.5:c.1942A>C	ENSP00000264033.3:p.Ser648Arg
ENST00000634586.1:c.1942A>C	ENSP00000489218.1:p.Ser648Arg
ENST00000634840.1:c.1810A>C	ENSP00000489324.1:p.Ser604Arg
NM_005188.3:c.1942A>C , LRG_608t1:c.1942A>C	NP_005179.2:p.Ser648Arg
NM_005188.4:c.1942A>C MANE Select	NP_005179.2:p.Ser648Arg