Canonical Allele Identifier: CA9888384

Gene: CD40

Linked Data

• dbSNP Id: rs752605955
• ExAC: 20:44750867 TCC / T
• gnomAD v2: 20-44750867-TCC-T
• gnomAD v3: 20-46122228-TCC-T
• gnomAD v4: 20-46122228-TCC-T
• MyVariant Identifiers: chr20:g.44750868_44750869del (hg19) ; chr20:g.46122229_46122230del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122229_46122230del , CM000682.2:g.46122229_46122230del	GRCh38
NC_000020.10:g.44750868_44750869del , CM000682.1:g.44750868_44750869del	GRCh37
NC_000020.9:g.44184275_44184276del	NCBI36
NG_007279.1:g.8963_8964del , LRG_40:g.8963_8964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.227-4_227-3del	ENSP00000512095.1:n.227-4_227-3del
ENST00000489304.6:c.131-4_131-3del	ENSP00000512096.1:n.131-4_131-3del
ENST00000695669.1:n.204-4_204-3del
ENST00000695670.1:n.111-4_111-3del
ENST00000695671.1:c.131-4_131-3del	ENSP00000512093.1:n.131-4_131-3del
ENST00000695672.1:n.56-4_56-3del
ENST00000372285.8:c.131-4_131-3del MANE Select	ENSP00000361359.3:n.131-4_131-3del
ENST00000372276.7:c.131-4_131-3del	ENSP00000361350.3:n.131-4_131-3del
ENST00000372285.7:c.131-4_131-3del	ENSP00000361359.3:n.131-4_131-3del
ENST00000466205.5:c.127-4_127-3del
ENST00000477696.5:n.198-4_198-3del
ENST00000489304.5:n.124-4_124-3del
ENST00000620709.4:c.131-4_131-3del	ENSP00000484074.1:n.131-4_131-3del
NM_001250.5:c.131-4_131-3del	NP_001241.1:n.131-4_131-3del
NM_001302753.1:c.131-4_131-3del	NP_001289682.1:n.131-4_131-3del
NM_152854.3:c.131-4_131-3del	NP_690593.1:n.131-4_131-3del
NR_126502.1:n.221-4_221-3del
XM_005260617.2:c.131-4_131-3del	XP_005260674.1:n.131-4_131-3del
XM_005260619.2:c.131-4_131-3del	XP_005260676.1:n.131-4_131-3del
XM_011529109.1:c.131-4_131-3del	XP_011527411.1:n.131-4_131-3del
XR_936660.1:n.225-4_225-3del
NM_001322421.1:c.131-4_131-3del	NP_001309350.1:n.131-4_131-3del
NM_001322422.1:c.131-4_131-3del	NP_001309351.1:n.131-4_131-3del
NM_001362758.1:c.131-4_131-3del	NP_001349687.1:n.131-4_131-3del
NR_136327.1:n.221-4_221-3del
XM_005260619.3:c.131-4_131-3del	XP_005260676.1:n.131-4_131-3del
XM_011529109.2:c.131-4_131-3del	XP_011527411.1:n.131-4_131-3del
XM_017028135.1:c.131-4_131-3del	XP_016883624.1:n.131-4_131-3del
XM_017028136.1:c.131-4_131-3del	XP_016883625.1:n.131-4_131-3del
NM_001250.6:c.131-4_131-3del MANE Select	NP_001241.1:n.131-4_131-3del
NM_001302753.2:c.131-4_131-3del	NP_001289682.1:n.131-4_131-3del
NM_001322421.2:c.131-4_131-3del	NP_001309350.1:n.131-4_131-3del
NM_001322422.2:c.131-4_131-3del	NP_001309351.1:n.131-4_131-3del
NM_001362758.2:c.131-4_131-3del	NP_001349687.1:n.131-4_131-3del
NM_152854.4:c.131-4_131-3del	NP_690593.1:n.131-4_131-3del
NR_126502.2:n.161-4_161-3del
NR_136327.2:n.161-4_161-3del