Canonical Allele Identifier: CA183197
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 178870
ClinVar RCV Id: RCV000155642 RCV001265817
dbSNP Id: rs727504504
gnomAD v4: 11-119278169-C-A
MyVariant Identifiers: chr11:g.119148879C>A (hg19) chr11:g.119278169C>A (hg38)
PubMed: PMID:19620960 PMID:20619386 PMID:20644105
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278169C>A , CM000673.2:g.119278169C>A GRCh38
NC_000011.9:g.119148879C>A , CM000673.1:g.119148879C>A GRCh37
NC_000011.8:g.118654089C>A NCBI36
NG_016808.1:g.76890C>A , LRG_608:g.76890C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*551C>A ENSP00000515005.1:n.*551C>A
ENST00000264033.6:c.1099C>A MANE Select ENSP00000264033.3:p.Gln367Lys
ENST00000637974.1:c.1093C>A ENSP00000490763.1:p.Gln365Lys
ENST00000264033.5:c.1099C>A ENSP00000264033.3:p.Gln367Lys
ENST00000634586.1:c.1099C>A ENSP00000489218.1:p.Gln367Lys
ENST00000634840.1:c.1099C>A ENSP00000489324.1:p.Gln367Lys
NM_005188.3:c.1099C>A , LRG_608t1:c.1099C>A NP_005179.2:p.Gln367Lys
XM_011543057.1:c.1099C>A XP_011541359.1:p.Gln367Lys
NM_005188.4:c.1099C>A MANE Select NP_005179.2:p.Gln367Lys
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