Canonical Allele Identifier: CA409212234

Gene: CD40

Linked Data

• COSMIC: COSM21818
• MyVariant Identifiers: chr20:g.44757642G>A (hg19) ; chr20:g.46129003G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129003G>A , CM000682.2:g.46129003G>A	GRCh38
NC_000020.10:g.44757642G>A , CM000682.1:g.44757642G>A	GRCh37
NC_000020.9:g.44191049G>A	NCBI36
NG_007279.1:g.15737G>A , LRG_40:g.15737G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.799G>A	ENSP00000512095.1:n.799G>A
ENST00000489304.6:c.880G>A	ENSP00000512096.1:n.880G>A
ENST00000695675.1:n.2673G>A
ENST00000372285.8:c.797G>A MANE Select	ENSP00000361359.3:p.Gly266Asp
ENST00000372276.7:c.*123G>A	ENSP00000361350.3:n.*123G>A
ENST00000372285.7:c.797G>A	ENSP00000361359.3:p.Gly266Asp
ENST00000466205.5:c.699G>A
ENST00000477696.5:n.770G>A
ENST00000489304.5:n.873G>A
ENST00000620709.4:c.*344G>A	ENSP00000484074.1:n.*344G>A
NM_001250.5:c.797G>A	NP_001241.1:p.Gly266Asp
NM_001302753.1:c.*123G>A	NP_001289682.1:n.*123G>A
NM_152854.3:c.*123G>A	NP_690593.1:n.*123G>A
NR_126502.1:n.890G>A
XM_005260617.2:c.809G>A	XP_005260674.1:p.Gly270Asp
XM_005260619.2:c.653G>A	XP_005260676.1:p.Gly218Asp
XR_936660.1:n.797G>A
NM_001322421.1:c.809G>A	NP_001309350.1:p.Gly270Asp
NM_001322422.1:c.641G>A	NP_001309351.1:p.Gly214Asp
NM_001362758.1:c.*123G>A	NP_001349687.1:n.*123G>A
NR_136327.1:n.793G>A
XM_005260619.3:c.653G>A	XP_005260676.1:p.Gly218Asp
XM_017028135.1:c.832G>A	XP_016883624.1:p.Ala278Thr
XM_017028136.1:c.730G>A	XP_016883625.1:p.Ala244Thr
NM_001250.6:c.797G>A MANE Select	NP_001241.1:p.Gly266Asp
NM_001302753.2:c.*123G>A	NP_001289682.1:n.*123G>A
NM_001322421.2:c.809G>A	NP_001309350.1:p.Gly270Asp
NM_001322422.2:c.641G>A	NP_001309351.1:p.Gly214Asp
NM_001362758.2:c.*123G>A	NP_001349687.1:n.*123G>A
NM_152854.4:c.*123G>A	NP_690593.1:n.*123G>A
NR_126502.2:n.830G>A
NR_136327.2:n.733G>A