Canonical Allele Identifier: CA184322
Gene: CBL HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.119285272C>A
GRCh37 chr11:g.119155982C>A
Revel Score:
ENST00000264033 (MANE Select) 0.265
gnomAD v2:
11:119155982 C / A
gnomAD v3:
11:119285272 C / A
gnomAD v4:
chr11-119285272-C-A
Joint Max Group AF 0.00077266 (SAS)
Genomes Max Group AF 0.00054129 (SAS)
Exomes Max Group AF 0.00075304 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119285272C>A , CM000673.2:g.119285272C>A GRCh38
NC_000011.9:g.119155982C>A , CM000673.1:g.119155982C>A GRCh37
NC_000011.8:g.118661192C>A NCBI36
NG_016808.1:g.83993C>A , LRG_608:g.83993C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*1099C>A ENSP00000515005.1:n.*1099C>A
ENST00000264033.6:c.1647C>A MANE Select ENSP00000264033.3:p.Asp549Glu
ENST00000637974.1:c.1641C>A ENSP00000490763.1:p.Asp547Glu
ENST00000264033.5:c.1647C>A ENSP00000264033.3:p.Asp549Glu
ENST00000634586.1:c.1647C>A ENSP00000489218.1:p.Asp549Glu
ENST00000634840.1:c.1515C>A ENSP00000489324.1:p.Asp505Glu
NM_005188.3:c.1647C>A , LRG_608t1:c.1647C>A NP_005179.2:p.Asp549Glu
NM_005188.4:c.1647C>A MANE Select NP_005179.2:p.Asp549Glu
Search 100 bp 5'
Search 100 bp 3'