Canonical Allele Identifier: CA1017964323

Gene: CD40

Linked Data

• dbSNP Id: rs2085502276
• gnomAD v3: 20-46129115-G-A
• gnomAD v4: 20-46129115-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129115G>A , CM000682.2:g.46129115G>A	GRCh38
NC_000020.10:g.44757754G>A , CM000682.1:g.44757754G>A	GRCh37
NC_000020.9:g.44191161G>A	NCBI36
NG_007279.1:g.15849G>A , LRG_40:g.15849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.992G>A	ENSP00000512096.1:n.992G>A
ENST00000695675.1:n.2785G>A
ENST00000372285.8:c.*75G>A MANE Select	ENSP00000361359.3:n.*75G>A
ENST00000372276.7:c.*235G>A	ENSP00000361350.3:n.*235G>A
ENST00000372285.7:c.*75G>A	ENSP00000361359.3:n.*75G>A
ENST00000466205.5:c.811G>A
ENST00000489304.5:n.985G>A
ENST00000620709.4:c.*456G>A	ENSP00000484074.1:n.*456G>A
NM_001250.5:c.*75G>A	NP_001241.1:n.*75G>A
NM_001302753.1:c.*235G>A	NP_001289682.1:n.*235G>A
NM_152854.3:c.*235G>A	NP_690593.1:n.*235G>A
NR_126502.1:n.1002G>A
XM_005260617.2:c.*75G>A	XP_005260674.1:n.*75G>A
XM_005260619.2:c.*75G>A	XP_005260676.1:n.*75G>A
NM_001322421.1:c.*75G>A	NP_001309350.1:n.*75G>A
NM_001322422.1:c.*75G>A	NP_001309351.1:n.*75G>A
NM_001362758.1:c.*235G>A	NP_001349687.1:n.*235G>A
NR_136327.1:n.905G>A
XM_005260619.3:c.*75G>A	XP_005260676.1:n.*75G>A
XM_017028135.1:c.944G>A	XP_016883624.1:p.Cys315Tyr
XM_017028136.1:c.842G>A	XP_016883625.1:p.Cys281Tyr
NM_001250.6:c.*75G>A MANE Select	NP_001241.1:n.*75G>A
NM_001302753.2:c.*235G>A	NP_001289682.1:n.*235G>A
NM_001322421.2:c.*75G>A	NP_001309350.1:n.*75G>A
NM_001322422.2:c.*75G>A	NP_001309351.1:n.*75G>A
NM_001362758.2:c.*235G>A	NP_001349687.1:n.*235G>A
NM_152854.4:c.*235G>A	NP_690593.1:n.*235G>A
NR_126502.2:n.942G>A
NR_136327.2:n.845G>A