Canonical Allele Identifier: CA6318480
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1650357
ClinVar RCV Id: RCV002163429
dbSNP Id: rs751199195
ExAC: 11:119149237 C / G
gnomAD v2: 11-119149237-C-G
gnomAD v3: 11-119278527-C-G
gnomAD v4: 11-119278527-C-G
MyVariant Identifiers: chr11:g.119149237C>G (hg19) chr11:g.119278527C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278527C>G , CM000673.2:g.119278527C>G GRCh38
NC_000011.9:g.119149237C>G , CM000673.1:g.119149237C>G GRCh37
NC_000011.8:g.118654447C>G NCBI36
NG_016808.1:g.77248C>G , LRG_608:g.77248C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*697C>G ENSP00000515005.1:n.*697C>G
ENST00000264033.6:c.1245C>G MANE Select ENSP00000264033.3:p.Gly415=
ENST00000637974.1:c.1239C>G ENSP00000490763.1:p.Gly413=
ENST00000264033.5:c.1245C>G ENSP00000264033.3:p.Gly415=
ENST00000634586.1:c.1245C>G ENSP00000489218.1:p.Gly415=
ENST00000634840.1:c.1245C>G ENSP00000489324.1:p.Gly415=
NM_005188.3:c.1245C>G , LRG_608t1:c.1245C>G NP_005179.2:p.Gly415=
XM_011543057.1:c.1245C>G XP_011541359.1:p.Gly415=
NM_005188.4:c.1245C>G MANE Select NP_005179.2:p.Gly415=
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Search 100 bp 3'