Canonical Allele Identifier: CA9888353

Gene: CD40

Linked Data

• ClinVar Variation Id: 338570
• ClinVar RCV Id: RCV001516524
• dbSNP Id: rs187683423
• ExAC: 20:44750444 C / T
• gnomAD v2: 20-44750444-C-T
• gnomAD v3: 20-46121805-C-T
• gnomAD v4: 20-46121805-C-T
• MyVariant Identifiers: chr20:g.44750444C>T (hg19) ; chr20:g.46121805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46121805C>T , CM000682.2:g.46121805C>T	GRCh38
NC_000020.10:g.44750444C>T , CM000682.1:g.44750444C>T	GRCh37
NC_000020.9:g.44183851C>T	NCBI36
NG_007279.1:g.8539C>T , LRG_40:g.8539C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.133C>T	ENSP00000512095.1:p.Gln45Ter
ENST00000489304.6:c.52-15C>T	ENSP00000512096.1:n.52-15C>T
ENST00000695669.1:n.125-15C>T
ENST00000695670.1:n.111-428C>T
ENST00000695671.1:c.52-15C>T	ENSP00000512093.1:n.52-15C>T
ENST00000695672.1:n.56-428C>T
ENST00000372285.8:c.52-15C>T MANE Select	ENSP00000361359.3:n.52-15C>T
ENST00000372276.7:c.52-15C>T	ENSP00000361350.3:n.52-15C>T
ENST00000372285.7:c.52-15C>T	ENSP00000361359.3:n.52-15C>T
ENST00000466205.5:c.48-15C>T
ENST00000477696.5:n.104C>T
ENST00000489304.5:n.45-15C>T
ENST00000620709.4:c.52-15C>T	ENSP00000484074.1:n.52-15C>T
NM_001250.5:c.52-15C>T	NP_001241.1:n.52-15C>T
NM_001302753.1:c.52-15C>T	NP_001289682.1:n.52-15C>T
NM_152854.3:c.52-15C>T	NP_690593.1:n.52-15C>T
NR_126502.1:n.142-15C>T
XM_005260617.2:c.52-15C>T	XP_005260674.1:n.52-15C>T
XM_005260619.2:c.52-15C>T	XP_005260676.1:n.52-15C>T
XM_011529109.1:c.52-15C>T	XP_011527411.1:n.52-15C>T
XR_936660.1:n.146-15C>T
NM_001322421.1:c.52-15C>T	NP_001309350.1:n.52-15C>T
NM_001322422.1:c.52-15C>T	NP_001309351.1:n.52-15C>T
NM_001362758.1:c.52-15C>T	NP_001349687.1:n.52-15C>T
NR_136327.1:n.142-15C>T
XM_005260619.3:c.52-15C>T	XP_005260676.1:n.52-15C>T
XM_011529109.2:c.52-15C>T	XP_011527411.1:n.52-15C>T
XM_017028135.1:c.52-15C>T	XP_016883624.1:n.52-15C>T
XM_017028136.1:c.52-15C>T	XP_016883625.1:n.52-15C>T
NM_001250.6:c.52-15C>T MANE Select	NP_001241.1:n.52-15C>T
NM_001302753.2:c.52-15C>T	NP_001289682.1:n.52-15C>T
NM_001322421.2:c.52-15C>T	NP_001309350.1:n.52-15C>T
NM_001322422.2:c.52-15C>T	NP_001309351.1:n.52-15C>T
NM_001362758.2:c.52-15C>T	NP_001349687.1:n.52-15C>T
NM_152854.4:c.52-15C>T	NP_690593.1:n.52-15C>T
NR_126502.2:n.82-15C>T
NR_136327.2:n.82-15C>T