Canonical Allele Identifier: CA10643978
Gene: CD40 HGNC NCBI

Linked Data

ClinVar Variation Id: 338580
ClinVar RCV Id: RCV000316673
dbSNP Id: rs565941222

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46129218G>A , CM000682.2:g.46129218G>A GRCh38
NC_000020.10:g.44757857G>A , CM000682.1:g.44757857G>A GRCh37
NC_000020.9:g.44191264G>A NCBI36
NG_007279.1:g.15952G>A , LRG_40:g.15952G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000489304.6:c.1095G>A ENSP00000512096.1:n.1095G>A
ENST00000695675.1:n.2888G>A
ENST00000372285.8:c.*178G>A MANE Select ENSP00000361359.3:n.*178G>A
ENST00000372276.7:c.*338G>A ENSP00000361350.3:n.*338G>A
ENST00000372285.7:c.*178G>A ENSP00000361359.3:n.*178G>A
ENST00000489304.5:n.1088G>A
ENST00000620709.4:c.*559G>A ENSP00000484074.1:n.*559G>A
NM_001250.5:c.*178G>A NP_001241.1:n.*178G>A
NM_001302753.1:c.*338G>A NP_001289682.1:n.*338G>A
NM_152854.3:c.*338G>A NP_690593.1:n.*338G>A
NR_126502.1:n.1105G>A
XM_005260617.2:c.*178G>A XP_005260674.1:n.*178G>A
XM_005260619.2:c.*178G>A XP_005260676.1:n.*178G>A
NM_001322421.1:c.*178G>A NP_001309350.1:n.*178G>A
NM_001322422.1:c.*178G>A NP_001309351.1:n.*178G>A
NM_001362758.1:c.*338G>A NP_001349687.1:n.*338G>A
NR_136327.1:n.1008G>A
XM_005260619.3:c.*178G>A XP_005260676.1:n.*178G>A
XM_017028135.1:c.*75G>A XP_016883624.1:n.*75G>A
XM_017028136.1:c.*75G>A XP_016883625.1:n.*75G>A
NM_001250.6:c.*178G>A MANE Select NP_001241.1:n.*178G>A
NM_001302753.2:c.*338G>A NP_001289682.1:n.*338G>A
NM_001322421.2:c.*178G>A NP_001309350.1:n.*178G>A
NM_001322422.2:c.*178G>A NP_001309351.1:n.*178G>A
NM_001362758.2:c.*338G>A NP_001349687.1:n.*338G>A
NM_152854.4:c.*338G>A NP_690593.1:n.*338G>A
NR_126502.2:n.1045G>A
NR_136327.2:n.948G>A