Canonical Allele Identifier: CA2573320741

Gene: CD40

Linked Data

• ClinVar Variation Id: 2138351
• ClinVar RCV Id: RCV003064608
• gnomAD v4: 20-46129035-CAGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129038_46129041del , CM000682.2:g.46129038_46129041del	GRCh38
NC_000020.10:g.44757677_44757680del , CM000682.1:g.44757677_44757680del	GRCh37
NC_000020.9:g.44191084_44191087del	NCBI36
NG_007279.1:g.15772_15775del , LRG_40:g.15772_15775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.915_918del	ENSP00000512096.1:n.915_918del
ENST00000695675.1:n.2708_2711del
ENST00000372285.8:c.832_*1del MANE Select	ENSP00000361359.3:n.[c.832_*1del;Ter278AlaextTer?]
ENST00000372276.7:c.*158_*161del	ENSP00000361350.3:n.*158_*161del
ENST00000372285.7:c.832_*1del	ENSP00000361359.3:n.[c.832_*1del;Ter278AlaextTer?]
ENST00000466205.5:c.734_737del
ENST00000489304.5:n.908_911del
ENST00000620709.4:c.*379_*382del	ENSP00000484074.1:n.*379_*382del
NM_001250.5:c.832_*1del	NP_001241.1:n.[c.832_*1del;Ter278AlaextTer?]
NM_001302753.1:c.*158_*161del	NP_001289682.1:n.*158_*161del
NM_152854.3:c.*158_*161del	NP_690593.1:n.*158_*161del
NR_126502.1:n.925_928del
XM_005260617.2:c.844_*1del	XP_005260674.1:n.[c.844_*1del;Ter282AlaextTer?]
XM_005260619.2:c.688_*1del	XP_005260676.1:n.[c.688_*1del;Ter230AlaextTer?]
XR_936660.1:n.832_835del
NM_001322421.1:c.844_*1del	NP_001309350.1:n.[c.844_*1del;Ter282AlaextTer?]
NM_001322422.1:c.676_*1del	NP_001309351.1:n.[c.676_*1del;Ter226AlaextTer?]
NM_001362758.1:c.*158_*161del	NP_001349687.1:n.*158_*161del
NR_136327.1:n.828_831del
XM_005260619.3:c.688_*1del	XP_005260676.1:n.[c.688_*1del;Ter230AlaextTer?]
XM_017028135.1:c.867_870del	XP_016883624.1:p.Ser289ArgfsTer28
XM_017028136.1:c.765_768del	XP_016883625.1:p.Ser255ArgfsTer28
NM_001250.6:c.832_*1del MANE Select	NP_001241.1:n.[c.832_*1del;Ter278AlaextTer?]
NM_001302753.2:c.*158_*161del	NP_001289682.1:n.*158_*161del
NM_001322421.2:c.844_*1del	NP_001309350.1:n.[c.844_*1del;Ter282AlaextTer?]
NM_001322422.2:c.676_*1del	NP_001309351.1:n.[c.676_*1del;Ter226AlaextTer?]
NM_001362758.2:c.*158_*161del	NP_001349687.1:n.*158_*161del
NM_152854.4:c.*158_*161del	NP_690593.1:n.*158_*161del
NR_126502.2:n.865_868del
NR_136327.2:n.768_771del