Canonical Allele Identifier: CA744875194

Gene: CD40

Linked Data

• dbSNP Id: rs1293394431
• gnomAD v3: 20-46129129-AG-A
• gnomAD v4: 20-46129129-AG-A
• MyVariant Identifiers: chr20:g.44757769del (hg19) ; chr20:g.46129130del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129133del , CM000682.2:g.46129133del	GRCh38
NC_000020.10:g.44757772del , CM000682.1:g.44757772del	GRCh37
NC_000020.9:g.44191179del	NCBI36
NG_007279.1:g.15867del , LRG_40:g.15867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1010del	ENSP00000512096.1:n.1010del
ENST00000695675.1:n.2803del
ENST00000372285.8:c.*93del MANE Select	ENSP00000361359.3:n.*93del
ENST00000372276.7:c.*253del	ENSP00000361350.3:n.*253del
ENST00000372285.7:c.*93del	ENSP00000361359.3:n.*93del
ENST00000489304.5:n.1003del
ENST00000620709.4:c.*474del	ENSP00000484074.1:n.*474del
NM_001250.5:c.*93del	NP_001241.1:n.*93del
NM_001302753.1:c.*253del	NP_001289682.1:n.*253del
NM_152854.3:c.*253del	NP_690593.1:n.*253del
NR_126502.1:n.1020del
XM_005260617.2:c.*93del	XP_005260674.1:n.*93del
XM_005260619.2:c.*93del	XP_005260676.1:n.*93del
NM_001322421.1:c.*93del	NP_001309350.1:n.*93del
NM_001322422.1:c.*93del	NP_001309351.1:n.*93del
NM_001362758.1:c.*253del	NP_001349687.1:n.*253del
NR_136327.1:n.923del
XM_005260619.3:c.*93del	XP_005260676.1:n.*93del
XM_017028135.1:c.962del	XP_016883624.1:p.Gly321AlafsTer7
XM_017028136.1:c.860del	XP_016883625.1:p.Gly287AlafsTer7
NM_001250.6:c.*93del MANE Select	NP_001241.1:n.*93del
NM_001302753.2:c.*253del	NP_001289682.1:n.*253del
NM_001322421.2:c.*93del	NP_001309350.1:n.*93del
NM_001322422.2:c.*93del	NP_001309351.1:n.*93del
NM_001362758.2:c.*253del	NP_001349687.1:n.*253del
NM_152854.4:c.*253del	NP_690593.1:n.*253del
NR_126502.2:n.960del
NR_136327.2:n.863del