Canonical Allele Identifier: CA9888423

Gene: CD40

Linked Data

• ClinVar Variation Id: 1395323
• ClinVar RCV Id: RCV001891355
• dbSNP Id: rs751182588
• ExAC: 20:44751235 CCTTCT / C
• gnomAD v2: 20-44751235-CCTTCT-C
• gnomAD v3: 20-46122596-CCTTCT-C
• gnomAD v4: 20-46122596-CCTTCT-C
• MyVariant Identifiers: chr20:g.44751236_44751240del (hg19) ; chr20:g.46122597_46122601del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122603_46122607del , CM000682.2:g.46122603_46122607del	GRCh38
NC_000020.10:g.44751242_44751246del , CM000682.1:g.44751242_44751246del	GRCh37
NC_000020.9:g.44184649_44184653del	NCBI36
NG_007279.1:g.9337_9341del , LRG_40:g.9337_9341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.353-7_353-3del	ENSP00000512095.1:n.353-7_353-3del
ENST00000489304.6:c.257-7_257-3del	ENSP00000512096.1:n.257-7_257-3del
ENST00000695669.1:n.330-7_330-3del
ENST00000695670.1:n.237-7_237-3del
ENST00000695671.1:c.257-7_257-3del	ENSP00000512093.1:n.257-7_257-3del
ENST00000695672.1:n.182-7_182-3del
ENST00000695673.1:n.122-7_122-3del
ENST00000372285.8:c.257-7_257-3del MANE Select	ENSP00000361359.3:n.257-7_257-3del
ENST00000372276.7:c.257-7_257-3del	ENSP00000361350.3:n.257-7_257-3del
ENST00000372285.7:c.257-7_257-3del	ENSP00000361359.3:n.257-7_257-3del
ENST00000461171.1:n.42-7_42-3del
ENST00000466205.5:c.253-7_253-3del
ENST00000477696.5:n.324-7_324-3del
ENST00000489304.5:n.250-7_250-3del
ENST00000620709.4:c.257-7_257-3del	ENSP00000484074.1:n.257-7_257-3del
NM_001250.5:c.257-7_257-3del	NP_001241.1:n.257-7_257-3del
NM_001302753.1:c.257-7_257-3del	NP_001289682.1:n.257-7_257-3del
NM_152854.3:c.257-7_257-3del	NP_690593.1:n.257-7_257-3del
NR_126502.1:n.347-7_347-3del
XM_005260617.2:c.257-7_257-3del	XP_005260674.1:n.257-7_257-3del
XM_005260619.2:c.257-7_257-3del	XP_005260676.1:n.257-7_257-3del
XM_011529109.1:c.257-7_257-3del	XP_011527411.1:n.257-7_257-3del
XR_936660.1:n.351-7_351-3del
NM_001322421.1:c.257-7_257-3del	NP_001309350.1:n.257-7_257-3del
NM_001322422.1:c.257-7_257-3del	NP_001309351.1:n.257-7_257-3del
NM_001362758.1:c.257-7_257-3del	NP_001349687.1:n.257-7_257-3del
NR_136327.1:n.347-7_347-3del
XM_005260619.3:c.257-7_257-3del	XP_005260676.1:n.257-7_257-3del
XM_011529109.2:c.257-7_257-3del	XP_011527411.1:n.257-7_257-3del
XM_017028135.1:c.257-7_257-3del	XP_016883624.1:n.257-7_257-3del
XM_017028136.1:c.257-7_257-3del	XP_016883625.1:n.257-7_257-3del
NM_001250.6:c.257-7_257-3del MANE Select	NP_001241.1:n.257-7_257-3del
NM_001302753.2:c.257-7_257-3del	NP_001289682.1:n.257-7_257-3del
NM_001322421.2:c.257-7_257-3del	NP_001309350.1:n.257-7_257-3del
NM_001322422.2:c.257-7_257-3del	NP_001309351.1:n.257-7_257-3del
NM_001362758.2:c.257-7_257-3del	NP_001349687.1:n.257-7_257-3del
NM_152854.4:c.257-7_257-3del	NP_690593.1:n.257-7_257-3del
NR_126502.2:n.287-7_287-3del
NR_136327.2:n.287-7_287-3del