Canonical Allele Identifier: CA6318410

Gene: CBL

Linked Data

• dbSNP Id: rs761928400
• ExAC: 11:119148464 C / T
• gnomAD v2: 11-119148464-C-T
• gnomAD v4: 11-119277754-C-T
• MyVariant Identifiers: chr11:g.119148464C>T (hg19) ; chr11:g.119277754C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277754C>T , CM000673.2:g.119277754C>T	GRCh38
NC_000011.9:g.119148464C>T , CM000673.1:g.119148464C>T	GRCh37
NC_000011.8:g.118653674C>T	NCBI36
NG_016808.1:g.76475C>T , LRG_608:g.76475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*460-3C>T	ENSP00000515005.1:n.*460-3C>T
ENST00000264033.6:c.1008-3C>T MANE Select	ENSP00000264033.3:n.1008-3C>T
ENST00000637974.1:c.1002-3C>T	ENSP00000490763.1:n.1002-3C>T
ENST00000264033.5:c.1008-3C>T	ENSP00000264033.3:n.1008-3C>T
ENST00000634586.1:c.1008-3C>T	ENSP00000489218.1:n.1008-3C>T
ENST00000634840.1:c.1008-3C>T	ENSP00000489324.1:n.1008-3C>T
NM_005188.3:c.1008-3C>T , LRG_608t1:c.1008-3C>T	NP_005179.2:n.1008-3C>T
XM_011543057.1:c.1008-3C>T	XP_011541359.1:n.1008-3C>T
NM_005188.4:c.1008-3C>T MANE Select	NP_005179.2:n.1008-3C>T