Canonical Allele Identifier: CA6318482
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 975833
ClinVar RCV Id: RCV001252955 RCV003222276 RCV003770311
dbSNP Id: rs757456261
ExAC: 11:119149239 G / C
gnomAD v2: 11-119149239-G-C
gnomAD v4: 11-119278529-G-C
MyVariant Identifiers: chr11:g.119149239G>C (hg19) chr11:g.119278529G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278529G>C , CM000673.2:g.119278529G>C GRCh38
NC_000011.9:g.119149239G>C , CM000673.1:g.119149239G>C GRCh37
NC_000011.8:g.118654449G>C NCBI36
NG_016808.1:g.77250G>C , LRG_608:g.77250G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*699G>C ENSP00000515005.1:n.*699G>C
ENST00000264033.6:c.1247G>C MANE Select ENSP00000264033.3:p.Cys416Ser
ENST00000637974.1:c.1241G>C ENSP00000490763.1:p.Cys414Ser
ENST00000264033.5:c.1247G>C ENSP00000264033.3:p.Cys416Ser
ENST00000634586.1:c.1247G>C ENSP00000489218.1:p.Cys416Ser
ENST00000634840.1:c.1247G>C ENSP00000489324.1:p.Cys416Ser
NM_005188.3:c.1247G>C , LRG_608t1:c.1247G>C NP_005179.2:p.Cys416Ser
XM_011543057.1:c.1247G>C XP_011541359.1:p.Cys416Ser
NM_005188.4:c.1247G>C MANE Select NP_005179.2:p.Cys416Ser
Search 100 bp 5'
Search 100 bp 3'