Canonical Allele Identifier: CA282046

Gene: CBL

Linked Data

• ClinVar Variation Id: 40422
• ClinVar RCV Id: RCV000033370 ; RCV000467413 ; RCV002504854 ; RCV004528151
• dbSNP Id: rs140725852
• ExAC: 11:119169166 G / A
• gnomAD v2: 11-119169166-G-A
• gnomAD v3: 11-119298456-G-A
• gnomAD v4: 11-119298456-G-A
• MyVariant Identifiers: chr11:g.119169166G>A (hg19) ; chr11:g.119298456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119298456G>A , CM000673.2:g.119298456G>A	GRCh38
NC_000011.9:g.119169166G>A , CM000673.1:g.119169166G>A	GRCh37
NC_000011.8:g.118674376G>A	NCBI36
NG_016808.1:g.97177G>A , LRG_608:g.97177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*1802G>A	ENSP00000515005.1:n.*1802G>A
ENST00000264033.6:c.2350G>A MANE Select	ENSP00000264033.3:p.Val784Met
ENST00000637974.1:c.2344G>A	ENSP00000490763.1:p.Val782Met
ENST00000264033.5:c.2350G>A	ENSP00000264033.3:p.Val784Met
ENST00000634301.1:c.85G>A	ENSP00000489556.1:p.Val29Met
ENST00000634586.1:c.2350G>A	ENSP00000489218.1:p.Val784Met
ENST00000634840.1:c.2218G>A	ENSP00000489324.1:p.Val740Met
NM_005188.3:c.2350G>A , LRG_608t1:c.2350G>A	NP_005179.2:p.Val784Met
NM_005188.4:c.2350G>A MANE Select	NP_005179.2:p.Val784Met