Canonical Allele Identifier: CA6318418
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 302778
ClinVar RCV Id: RCV000393886 RCV001850604
dbSNP Id: rs756742202
ExAC: 11:119148553 A / G
gnomAD v2: 11-119148553-A-G
gnomAD v4: 11-119277843-A-G
MyVariant Identifiers: chr11:g.119148553A>G (hg19) chr11:g.119277843A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277843A>G , CM000673.2:g.119277843A>G GRCh38
NC_000011.9:g.119148553A>G , CM000673.1:g.119148553A>G GRCh37
NC_000011.8:g.118653763A>G NCBI36
NG_016808.1:g.76564A>G , LRG_608:g.76564A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*546A>G ENSP00000515005.1:n.*546A>G
ENST00000264033.6:c.1094A>G MANE Select ENSP00000264033.3:p.Gln365Arg
ENST00000637974.1:c.1088A>G ENSP00000490763.1:p.Gln363Arg
ENST00000264033.5:c.1094A>G ENSP00000264033.3:p.Gln365Arg
ENST00000634586.1:c.1094A>G ENSP00000489218.1:p.Gln365Arg
ENST00000634840.1:c.1094A>G ENSP00000489324.1:p.Gln365Arg
NM_005188.3:c.1094A>G , LRG_608t1:c.1094A>G NP_005179.2:p.Gln365Arg
XM_011543057.1:c.1094A>G XP_011541359.1:p.Gln365Arg
NM_005188.4:c.1094A>G MANE Select NP_005179.2:p.Gln365Arg
Search 100 bp 5'
Search 100 bp 3'