Canonical Allele Identifier: CA6318485

Gene: CBL

Linked Data

• ClinVar Variation Id: 1327077
• ClinVar RCV Id: RCV001788957 ; RCV002290763 ; RCV003772177 ; RCV004040834
• dbSNP Id: rs772156285
• ExAC: 11:119149245 T / C
• gnomAD v2: 11-119149245-T-C
• gnomAD v3: 11-119278535-T-C
• gnomAD v4: 11-119278535-T-C
• MyVariant Identifiers: chr11:g.119149245T>C (hg19) ; chr11:g.119278535T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278535T>C , CM000673.2:g.119278535T>C	GRCh38
NC_000011.9:g.119149245T>C , CM000673.1:g.119149245T>C	GRCh37
NC_000011.8:g.118654455T>C	NCBI36
NG_016808.1:g.77256T>C , LRG_608:g.77256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*705T>C	ENSP00000515005.1:n.*705T>C
ENST00000264033.6:c.1253T>C MANE Select	ENSP00000264033.3:p.Phe418Ser
ENST00000637974.1:c.1247T>C	ENSP00000490763.1:p.Phe416Ser
ENST00000264033.5:c.1253T>C	ENSP00000264033.3:p.Phe418Ser
ENST00000634586.1:c.1253T>C	ENSP00000489218.1:p.Phe418Ser
ENST00000634840.1:c.1253T>C	ENSP00000489324.1:p.Phe418Ser
NM_005188.3:c.1253T>C , LRG_608t1:c.1253T>C	NP_005179.2:p.Phe418Ser
XM_011543057.1:c.1253T>C	XP_011541359.1:p.Phe418Ser
NM_005188.4:c.1253T>C MANE Select	NP_005179.2:p.Phe418Ser