Canonical Allele Identifier: CA2653133975

Gene: CD40

Linked Data

• gnomAD v4: 20-46129089-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129089C>A , CM000682.2:g.46129089C>A	GRCh38
NC_000020.10:g.44757728C>A , CM000682.1:g.44757728C>A	GRCh37
NC_000020.9:g.44191135C>A	NCBI36
NG_007279.1:g.15823C>A , LRG_40:g.15823C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.966C>A	ENSP00000512096.1:n.966C>A
ENST00000695675.1:n.2759C>A
ENST00000372285.8:c.*49C>A MANE Select	ENSP00000361359.3:n.*49C>A
ENST00000372276.7:c.*209C>A	ENSP00000361350.3:n.*209C>A
ENST00000372285.7:c.*49C>A	ENSP00000361359.3:n.*49C>A
ENST00000466205.5:c.785C>A
ENST00000489304.5:n.959C>A
ENST00000620709.4:c.*430C>A	ENSP00000484074.1:n.*430C>A
NM_001250.5:c.*49C>A	NP_001241.1:n.*49C>A
NM_001302753.1:c.*209C>A	NP_001289682.1:n.*209C>A
NM_152854.3:c.*209C>A	NP_690593.1:n.*209C>A
NR_126502.1:n.976C>A
XM_005260617.2:c.*49C>A	XP_005260674.1:n.*49C>A
XM_005260619.2:c.*49C>A	XP_005260676.1:n.*49C>A
NM_001322421.1:c.*49C>A	NP_001309350.1:n.*49C>A
NM_001322422.1:c.*49C>A	NP_001309351.1:n.*49C>A
NM_001362758.1:c.*209C>A	NP_001349687.1:n.*209C>A
NR_136327.1:n.879C>A
XM_005260619.3:c.*49C>A	XP_005260676.1:n.*49C>A
XM_017028135.1:c.918C>A	XP_016883624.1:p.Gly306=
XM_017028136.1:c.816C>A	XP_016883625.1:p.Gly272=
NM_001250.6:c.*49C>A MANE Select	NP_001241.1:n.*49C>A
NM_001302753.2:c.*209C>A	NP_001289682.1:n.*209C>A
NM_001322421.2:c.*49C>A	NP_001309350.1:n.*49C>A
NM_001322422.2:c.*49C>A	NP_001309351.1:n.*49C>A
NM_001362758.2:c.*209C>A	NP_001349687.1:n.*209C>A
NM_152854.4:c.*209C>A	NP_690593.1:n.*209C>A
NR_126502.2:n.916C>A
NR_136327.2:n.819C>A