Canonical Allele Identifier: CA409205170

Gene: CD40

Linked Data

• gnomAD v4: 20-46122685-G-A
• MyVariant Identifiers: chr20:g.44751324G>A (hg19) ; chr20:g.46122685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122685G>A , CM000682.2:g.46122685G>A	GRCh38
NC_000020.10:g.44751324G>A , CM000682.1:g.44751324G>A	GRCh37
NC_000020.9:g.44184731G>A	NCBI36
NG_007279.1:g.9419G>A , LRG_40:g.9419G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.428G>A	ENSP00000512095.1:n.428G>A
ENST00000489304.6:c.332G>A	ENSP00000512096.1:p.Cys111Tyr
ENST00000695669.1:n.405G>A
ENST00000695670.1:n.312G>A
ENST00000695671.1:c.332G>A	ENSP00000512093.1:p.Cys111Tyr
ENST00000695672.1:n.257G>A
ENST00000695673.1:n.197G>A
ENST00000372285.8:c.332G>A MANE Select	ENSP00000361359.3:p.Cys111Tyr
ENST00000372276.7:c.332G>A	ENSP00000361350.3:p.Cys111Tyr
ENST00000372285.7:c.332G>A	ENSP00000361359.3:p.Cys111Tyr
ENST00000461171.1:n.117G>A
ENST00000466205.5:c.328G>A
ENST00000477696.5:n.399G>A
ENST00000489304.5:n.325G>A
ENST00000620709.4:c.332G>A	ENSP00000484074.1:p.Cys111Tyr
NM_001250.5:c.332G>A	NP_001241.1:p.Cys111Tyr
NM_001302753.1:c.332G>A	NP_001289682.1:p.Cys111Tyr
NM_152854.3:c.332G>A	NP_690593.1:p.Cys111Tyr
NR_126502.1:n.422G>A
XM_005260617.2:c.332G>A	XP_005260674.1:p.Cys111Tyr
XM_005260619.2:c.332G>A	XP_005260676.1:p.Cys111Tyr
XM_011529109.1:c.332G>A	XP_011527411.1:p.Cys111Tyr
XR_936660.1:n.426G>A
NM_001322421.1:c.332G>A	NP_001309350.1:p.Cys111Tyr
NM_001322422.1:c.332G>A	NP_001309351.1:p.Cys111Tyr
NM_001362758.1:c.332G>A	NP_001349687.1:p.Cys111Tyr
NR_136327.1:n.422G>A
XM_005260619.3:c.332G>A	XP_005260676.1:p.Cys111Tyr
XM_011529109.2:c.332G>A	XP_011527411.1:p.Cys111Tyr
XM_017028135.1:c.332G>A	XP_016883624.1:p.Cys111Tyr
XM_017028136.1:c.332G>A	XP_016883625.1:p.Cys111Tyr
NM_001250.6:c.332G>A MANE Select	NP_001241.1:p.Cys111Tyr
NM_001302753.2:c.332G>A	NP_001289682.1:p.Cys111Tyr
NM_001322421.2:c.332G>A	NP_001309350.1:p.Cys111Tyr
NM_001322422.2:c.332G>A	NP_001309351.1:p.Cys111Tyr
NM_001362758.2:c.332G>A	NP_001349687.1:p.Cys111Tyr
NM_152854.4:c.332G>A	NP_690593.1:p.Cys111Tyr
NR_126502.2:n.362G>A
NR_136327.2:n.362G>A