Canonical Allele Identifier: CA382976343

Gene: CBL

Linked Data

• ClinVar Variation Id: 2567305
• ClinVar RCV Id: RCV003278437
• gnomAD v4: 11-119206553-C-A
• MyVariant Identifiers: chr11:g.119077263C>A (hg19) ; chr11:g.119206553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206553C>A , CM000673.2:g.119206553C>A	GRCh38
NC_000011.9:g.119077263C>A , CM000673.1:g.119077263C>A	GRCh37
NC_000011.8:g.118582473C>A	NCBI36
NG_016808.1:g.5274C>A , LRG_608:g.5274C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.136C>A	ENSP00000515005.1:p.His46Asn
ENST00000264033.6:c.136C>A MANE Select	ENSP00000264033.3:p.His46Asn
ENST00000637974.1:c.130C>A	ENSP00000490763.1:p.His44Asn
ENST00000264033.5:c.136C>A	ENSP00000264033.3:p.His46Asn
ENST00000634586.1:c.136C>A	ENSP00000489218.1:p.His46Asn
ENST00000634840.1:c.136C>A	ENSP00000489324.1:p.His46Asn
NM_005188.3:c.136C>A , LRG_608t1:c.136C>A	NP_005179.2:p.His46Asn
XM_011543057.1:c.136C>A	XP_011541359.1:p.His46Asn
NM_005188.4:c.136C>A MANE Select	NP_005179.2:p.His46Asn