Canonical Allele Identifier: CA295986
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 180815
ClinVar RCV Id: RCV000157858 RCV000217231 RCV000702743 RCV001249230
dbSNP Id: rs397517076
gnomAD v3: 11-119278165-G-T
gnomAD v4: 11-119278165-G-T
COSMIC: COSM5879359
MyVariant Identifiers: chr11:g.119148875G>T (hg19) chr11:g.119278165G>T (hg38)
PubMed: PMID:20595524 PMID:20694012 PMID:23823657 PMID:25358541 PMID:25952305
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278165G>T , CM000673.2:g.119278165G>T GRCh38
NC_000011.9:g.119148875G>T , CM000673.1:g.119148875G>T GRCh37
NC_000011.8:g.118654085G>T NCBI36
NG_016808.1:g.76886G>T , LRG_608:g.76886G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*548-1G>T ENSP00000515005.1:n.*548-1G>T
ENST00000264033.6:c.1096-1G>T MANE Select ENSP00000264033.3:n.1096-1G>T
ENST00000637974.1:c.1090-1G>T ENSP00000490763.1:n.1090-1G>T
ENST00000264033.5:c.1096-1G>T ENSP00000264033.3:n.1096-1G>T
ENST00000634586.1:c.1096-1G>T ENSP00000489218.1:n.1096-1G>T
ENST00000634840.1:c.1096-1G>T ENSP00000489324.1:n.1096-1G>T
NM_005188.3:c.1096-1G>T , LRG_608t1:c.1096-1G>T NP_005179.2:n.1096-1G>T
XM_011543057.1:c.1096-1G>T XP_011541359.1:n.1096-1G>T
NM_005188.4:c.1096-1G>T MANE Select NP_005179.2:n.1096-1G>T
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