Canonical Allele Identifier: CA6318413
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1396535
ClinVar RCV Id: RCV001887440 RCV002506982
dbSNP Id: rs759585425
ExAC: 11:119148487 G / A
gnomAD v2: 11-119148487-G-A
gnomAD v3: 11-119277777-G-A
gnomAD v4: 11-119277777-G-A
COSMIC: COSM5050591
MyVariant Identifiers: chr11:g.119148487G>A (hg19) chr11:g.119277777G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277777G>A , CM000673.2:g.119277777G>A GRCh38
NC_000011.9:g.119148487G>A , CM000673.1:g.119148487G>A GRCh37
NC_000011.8:g.118653697G>A NCBI36
NG_016808.1:g.76498G>A , LRG_608:g.76498G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*480G>A ENSP00000515005.1:n.*480G>A
ENST00000264033.6:c.1028G>A MANE Select ENSP00000264033.3:p.Arg343Gln
ENST00000637974.1:c.1022G>A ENSP00000490763.1:p.Arg341Gln
ENST00000264033.5:c.1028G>A ENSP00000264033.3:p.Arg343Gln
ENST00000634586.1:c.1028G>A ENSP00000489218.1:p.Arg343Gln
ENST00000634840.1:c.1028G>A ENSP00000489324.1:p.Arg343Gln
NM_005188.3:c.1028G>A , LRG_608t1:c.1028G>A NP_005179.2:p.Arg343Gln
XM_011543057.1:c.1028G>A XP_011541359.1:p.Arg343Gln
NM_005188.4:c.1028G>A MANE Select NP_005179.2:p.Arg343Gln
Search 100 bp 5'
Search 100 bp 3'