Canonical Allele Identifier: CA10653168

Gene: CD40

Linked Data

• ClinVar Variation Id: 338565
• ClinVar RCV Id: RCV001844129
• dbSNP Id: rs11569300
• gnomAD v2: 20-44746913-CT-C
• gnomAD v3: 20-46118274-CT-C
• gnomAD v4: 20-46118274-CT-C
• MyVariant Identifiers: chr20:g.44746914del (hg19) ; chr20:g.46118275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46118275del , CM000682.2:g.46118275del	GRCh38
NC_000020.10:g.44746914del , CM000682.1:g.44746914del	GRCh37
NC_000020.9:g.44180321del	NCBI36
NG_007279.1:g.5009del , LRG_40:g.5009del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695669.1:n.5del
ENST00000372285.7:c.-69del	ENSP00000361359.3:n.-69del
NM_001250.5:c.-69del	NP_001241.1:n.-69del
NM_001302753.1:c.-69del	NP_001289682.1:n.-69del
NM_152854.3:c.-69del	NP_690593.1:n.-69del
NR_126502.1:n.22del
XM_005260617.2:c.-69del	XP_005260674.1:n.-69del
XM_005260619.2:c.-69del	XP_005260676.1:n.-69del
XM_011529109.1:c.-69del	XP_011527411.1:n.-69del
XR_936660.1:n.26del
NM_001322421.1:c.-69del	NP_001309350.1:n.-69del
NM_001322422.1:c.-69del	NP_001309351.1:n.-69del
NM_001362758.1:c.-69del	NP_001349687.1:n.-69del
NR_136327.1:n.22del
XM_005260619.3:c.-69del	XP_005260676.1:n.-69del
XM_011529109.2:c.-69del	XP_011527411.1:n.-69del
XM_017028135.1:c.-69del	XP_016883624.1:n.-69del
XM_017028136.1:c.-69del	XP_016883625.1:n.-69del