Canonical Allele Identifier: CA409204044

Gene: CD40

Linked Data

• dbSNP Id: rs1406703700
• gnomAD v4: 20-46122352-G-A
• MyVariant Identifiers: chr20:g.44750991G>A (hg19) ; chr20:g.46122352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122352G>A , CM000682.2:g.46122352G>A	GRCh38
NC_000020.10:g.44750991G>A , CM000682.1:g.44750991G>A	GRCh37
NC_000020.9:g.44184398G>A	NCBI36
NG_007279.1:g.9086G>A , LRG_40:g.9086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.346G>A	ENSP00000512095.1:n.346G>A
ENST00000489304.6:c.250G>A	ENSP00000512096.1:p.Asp84Asn
ENST00000695669.1:n.323G>A
ENST00000695670.1:n.230G>A
ENST00000695671.1:c.250G>A	ENSP00000512093.1:p.Asp84Asn
ENST00000695672.1:n.175G>A
ENST00000695673.1:n.115G>A
ENST00000372285.8:c.250G>A MANE Select	ENSP00000361359.3:p.Asp84Asn
ENST00000372276.7:c.250G>A	ENSP00000361350.3:p.Asp84Asn
ENST00000372285.7:c.250G>A	ENSP00000361359.3:p.Asp84Asn
ENST00000461171.1:n.35G>A
ENST00000466205.5:c.246G>A
ENST00000477696.5:n.317G>A
ENST00000489304.5:n.243G>A
ENST00000620709.4:c.250G>A	ENSP00000484074.1:p.Asp84Asn
NM_001250.5:c.250G>A	NP_001241.1:p.Asp84Asn
NM_001302753.1:c.250G>A	NP_001289682.1:p.Asp84Asn
NM_152854.3:c.250G>A	NP_690593.1:p.Asp84Asn
NR_126502.1:n.340G>A
XM_005260617.2:c.250G>A	XP_005260674.1:p.Asp84Asn
XM_005260619.2:c.250G>A	XP_005260676.1:p.Asp84Asn
XM_011529109.1:c.250G>A	XP_011527411.1:p.Asp84Asn
XR_936660.1:n.344G>A
NM_001322421.1:c.250G>A	NP_001309350.1:p.Asp84Asn
NM_001322422.1:c.250G>A	NP_001309351.1:p.Asp84Asn
NM_001362758.1:c.250G>A	NP_001349687.1:p.Asp84Asn
NR_136327.1:n.340G>A
XM_005260619.3:c.250G>A	XP_005260676.1:p.Asp84Asn
XM_011529109.2:c.250G>A	XP_011527411.1:p.Asp84Asn
XM_017028135.1:c.250G>A	XP_016883624.1:p.Asp84Asn
XM_017028136.1:c.250G>A	XP_016883625.1:p.Asp84Asn
NM_001250.6:c.250G>A MANE Select	NP_001241.1:p.Asp84Asn
NM_001302753.2:c.250G>A	NP_001289682.1:p.Asp84Asn
NM_001322421.2:c.250G>A	NP_001309350.1:p.Asp84Asn
NM_001322422.2:c.250G>A	NP_001309351.1:p.Asp84Asn
NM_001362758.2:c.250G>A	NP_001349687.1:p.Asp84Asn
NM_152854.4:c.250G>A	NP_690593.1:p.Asp84Asn
NR_126502.2:n.280G>A
NR_136327.2:n.280G>A