Canonical Allele Identifier: CA16613531
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 405368
ClinVar RCV Id: RCV000460268 RCV001731686
dbSNP Id: rs1060500678
gnomAD v3: 11-119277823-A-G
gnomAD v4: 11-119277823-A-G
MyVariant Identifiers: chr11:g.119148533A>G (hg19) chr11:g.119277823A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277823A>G , CM000673.2:g.119277823A>G GRCh38
NC_000011.9:g.119148533A>G , CM000673.1:g.119148533A>G GRCh37
NC_000011.8:g.118653743A>G NCBI36
NG_016808.1:g.76544A>G , LRG_608:g.76544A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*526A>G ENSP00000515005.1:n.*526A>G
ENST00000264033.6:c.1074A>G MANE Select ENSP00000264033.3:p.Gln358=
ENST00000637974.1:c.1068A>G ENSP00000490763.1:p.Gln356=
ENST00000264033.5:c.1074A>G ENSP00000264033.3:p.Gln358=
ENST00000634586.1:c.1074A>G ENSP00000489218.1:p.Gln358=
ENST00000634840.1:c.1074A>G ENSP00000489324.1:p.Gln358=
NM_005188.3:c.1074A>G , LRG_608t1:c.1074A>G NP_005179.2:p.Gln358=
XM_011543057.1:c.1074A>G XP_011541359.1:p.Gln358=
NM_005188.4:c.1074A>G MANE Select NP_005179.2:p.Gln358=
Search 100 bp 5'
Search 100 bp 3'