Canonical Allele Identifier: CA409209666

Gene: CD40

Linked Data

• ClinVar Variation Id: 2785002
• ClinVar RCV Id: RCV003662584
• dbSNP Id: rs2085475059
• gnomAD v4: 20-46128225-G-A
• MyVariant Identifiers: chr20:g.44756864G>A (hg19) ; chr20:g.46128225G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128225G>A , CM000682.2:g.46128225G>A	GRCh38
NC_000020.10:g.44756864G>A , CM000682.1:g.44756864G>A	GRCh37
NC_000020.9:g.44190271G>A	NCBI36
NG_007279.1:g.14959G>A , LRG_40:g.14959G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.648+1G>A	ENSP00000512095.1:n.648+1G>A
ENST00000489304.6:c.729+1G>A	ENSP00000512096.1:n.729+1G>A
ENST00000695670.1:n.616G>A
ENST00000695671.1:c.686+1G>A	ENSP00000512093.1:n.686+1G>A
ENST00000695674.1:n.1125+1G>A
ENST00000695675.1:n.2522+1G>A
ENST00000372285.8:c.646+1G>A MANE Select	ENSP00000361359.3:n.646+1G>A
ENST00000372276.7:c.584+1G>A	ENSP00000361350.3:n.584+1G>A
ENST00000372285.7:c.646+1G>A	ENSP00000361359.3:n.646+1G>A
ENST00000466205.5:c.548+1G>A
ENST00000477696.5:n.619+1G>A
ENST00000489304.5:n.722+1G>A
ENST00000620709.4:c.*193+1G>A	ENSP00000484074.1:n.*193+1G>A
NM_001250.5:c.646+1G>A	NP_001241.1:n.646+1G>A
NM_001302753.1:c.686+1G>A	NP_001289682.1:n.686+1G>A
NM_152854.3:c.584+1G>A	NP_690593.1:n.584+1G>A
NR_126502.1:n.739+1G>A
XM_005260617.2:c.647G>A	XP_005260674.1:p.Ser216Asn
XM_005260619.2:c.491G>A	XP_005260676.1:p.Ser164Asn
XR_936660.1:n.646+1G>A
NM_001322421.1:c.647G>A	NP_001309350.1:p.Ser216Asn
NM_001322422.1:c.490+1G>A	NP_001309351.1:n.490+1G>A
NM_001362758.1:c.646+1G>A	NP_001349687.1:n.646+1G>A
NR_136327.1:n.642+1G>A
XM_005260619.3:c.491G>A	XP_005260676.1:p.Ser164Asn
XM_017028135.1:c.686+1G>A	XP_016883624.1:n.686+1G>A
XM_017028136.1:c.584+1G>A	XP_016883625.1:n.584+1G>A
NM_001250.6:c.646+1G>A MANE Select	NP_001241.1:n.646+1G>A
NM_001302753.2:c.686+1G>A	NP_001289682.1:n.686+1G>A
NM_001322421.2:c.647G>A	NP_001309350.1:p.Ser216Asn
NM_001322422.2:c.490+1G>A	NP_001309351.1:n.490+1G>A
NM_001362758.2:c.646+1G>A	NP_001349687.1:n.646+1G>A
NM_152854.4:c.584+1G>A	NP_690593.1:n.584+1G>A
NR_126502.2:n.679+1G>A
NR_136327.2:n.582+1G>A