Canonical Allele Identifier: CA477134062
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 1592072
ClinVar RCV Id: RCV002096518 RCV002382358
dbSNP Id: rs1368487308
gnomAD v2: 11-119148482-T-C
gnomAD v4: 11-119277772-T-C
MyVariant Identifiers: chr11:g.119148482T>C (hg19) chr11:g.119277772T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277772T>C , CM000673.2:g.119277772T>C GRCh38
NC_000011.9:g.119148482T>C , CM000673.1:g.119148482T>C GRCh37
NC_000011.8:g.118653692T>C NCBI36
NG_016808.1:g.76493T>C , LRG_608:g.76493T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*475T>C ENSP00000515005.1:n.*475T>C
ENST00000264033.6:c.1023T>C MANE Select ENSP00000264033.3:p.Asp341=
ENST00000637974.1:c.1017T>C ENSP00000490763.1:p.Asp339=
ENST00000264033.5:c.1023T>C ENSP00000264033.3:p.Asp341=
ENST00000634586.1:c.1023T>C ENSP00000489218.1:p.Asp341=
ENST00000634840.1:c.1023T>C ENSP00000489324.1:p.Asp341=
NM_005188.3:c.1023T>C , LRG_608t1:c.1023T>C NP_005179.2:p.Asp341=
XM_011543057.1:c.1023T>C XP_011541359.1:p.Asp341=
NM_005188.4:c.1023T>C MANE Select NP_005179.2:p.Asp341=
Search 100 bp 5'
Search 100 bp 3'