Canonical Allele Identifier: CA1017964344

Gene: CD40

Linked Data

• dbSNP Id: rs2085504910
• gnomAD v3: 20-46129172-AC-A
• gnomAD v4: 20-46129172-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129176del , CM000682.2:g.46129176del	GRCh38
NC_000020.10:g.44757815del , CM000682.1:g.44757815del	GRCh37
NC_000020.9:g.44191222del	NCBI36
NG_007279.1:g.15910del , LRG_40:g.15910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1053del	ENSP00000512096.1:n.1053del
ENST00000695675.1:n.2846del
ENST00000372285.8:c.*136del MANE Select	ENSP00000361359.3:n.*136del
ENST00000372276.7:c.*296del	ENSP00000361350.3:n.*296del
ENST00000372285.7:c.*136del	ENSP00000361359.3:n.*136del
ENST00000489304.5:n.1046del
ENST00000620709.4:c.*517del	ENSP00000484074.1:n.*517del
NM_001250.5:c.*136del	NP_001241.1:n.*136del
NM_001302753.1:c.*296del	NP_001289682.1:n.*296del
NM_152854.3:c.*296del	NP_690593.1:n.*296del
NR_126502.1:n.1063del
XM_005260617.2:c.*136del	XP_005260674.1:n.*136del
XM_005260619.2:c.*136del	XP_005260676.1:n.*136del
NM_001322421.1:c.*136del	NP_001309350.1:n.*136del
NM_001322422.1:c.*136del	NP_001309351.1:n.*136del
NM_001362758.1:c.*296del	NP_001349687.1:n.*296del
NR_136327.1:n.966del
XM_005260619.3:c.*136del	XP_005260676.1:n.*136del
XM_017028135.1:c.*33del	XP_016883624.1:n.*33del
XM_017028136.1:c.*33del	XP_016883625.1:n.*33del
NM_001250.6:c.*136del MANE Select	NP_001241.1:n.*136del
NM_001302753.2:c.*296del	NP_001289682.1:n.*296del
NM_001322421.2:c.*136del	NP_001309350.1:n.*136del
NM_001322422.2:c.*136del	NP_001309351.1:n.*136del
NM_001362758.2:c.*296del	NP_001349687.1:n.*296del
NM_152854.4:c.*296del	NP_690593.1:n.*296del
NR_126502.2:n.1003del
NR_136327.2:n.906del