Canonical Allele Identifier: CA6318236

Gene: CBL

Linked Data

• ClinVar Variation Id: 377628
• ClinVar RCV Id: RCV000436652 ; RCV001222390 ; RCV001813473 ; RCV002418246
• dbSNP Id: rs762062705
• ExAC: 11:119077325 G / A
• gnomAD v2: 11-119077325-G-A
• gnomAD v3: 11-119206615-G-A
• gnomAD v4: 11-119206615-G-A
• MyVariant Identifiers: chr11:g.119077325G>A (hg19) ; chr11:g.119206615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206615G>A , CM000673.2:g.119206615G>A	GRCh38
NC_000011.9:g.119077325G>A , CM000673.1:g.119077325G>A	GRCh37
NC_000011.8:g.118582535G>A	NCBI36
NG_016808.1:g.5336G>A , LRG_608:g.5336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.195+3G>A	ENSP00000515005.1:n.195+3G>A
ENST00000264033.6:c.195+3G>A MANE Select	ENSP00000264033.3:n.195+3G>A
ENST00000637974.1:c.189+3G>A	ENSP00000490763.1:n.189+3G>A
ENST00000264033.5:c.195+3G>A	ENSP00000264033.3:n.195+3G>A
ENST00000634586.1:c.195+3G>A	ENSP00000489218.1:n.195+3G>A
ENST00000634840.1:c.195+3G>A	ENSP00000489324.1:n.195+3G>A
NM_005188.3:c.195+3G>A , LRG_608t1:c.195+3G>A	NP_005179.2:n.195+3G>A
XM_011543057.1:c.195+3G>A	XP_011541359.1:n.195+3G>A
NM_005188.4:c.195+3G>A MANE Select	NP_005179.2:n.195+3G>A