Canonical Allele Identifier: CA2653133944

Gene: CD40

Linked Data

• gnomAD v4: 20-46129049-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129049C>T , CM000682.2:g.46129049C>T	GRCh38
NC_000020.10:g.44757688C>T , CM000682.1:g.44757688C>T	GRCh37
NC_000020.9:g.44191095C>T	NCBI36
NG_007279.1:g.15783C>T , LRG_40:g.15783C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.926C>T	ENSP00000512096.1:n.926C>T
ENST00000695675.1:n.2719C>T
ENST00000372285.8:c.*9C>T MANE Select	ENSP00000361359.3:n.*9C>T
ENST00000372276.7:c.*169C>T	ENSP00000361350.3:n.*169C>T
ENST00000372285.7:c.*9C>T	ENSP00000361359.3:n.*9C>T
ENST00000466205.5:c.745C>T
ENST00000489304.5:n.919C>T
ENST00000620709.4:c.*390C>T	ENSP00000484074.1:n.*390C>T
NM_001250.5:c.*9C>T	NP_001241.1:n.*9C>T
NM_001302753.1:c.*169C>T	NP_001289682.1:n.*169C>T
NM_152854.3:c.*169C>T	NP_690593.1:n.*169C>T
NR_126502.1:n.936C>T
XM_005260617.2:c.*9C>T	XP_005260674.1:n.*9C>T
XM_005260619.2:c.*9C>T	XP_005260676.1:n.*9C>T
XR_936660.1:n.843C>T
NM_001322421.1:c.*9C>T	NP_001309350.1:n.*9C>T
NM_001322422.1:c.*9C>T	NP_001309351.1:n.*9C>T
NM_001362758.1:c.*169C>T	NP_001349687.1:n.*169C>T
NR_136327.1:n.839C>T
XM_005260619.3:c.*9C>T	XP_005260676.1:n.*9C>T
XM_017028135.1:c.878C>T	XP_016883624.1:p.Pro293Leu
XM_017028136.1:c.776C>T	XP_016883625.1:p.Pro259Leu
NM_001250.6:c.*9C>T MANE Select	NP_001241.1:n.*9C>T
NM_001302753.2:c.*169C>T	NP_001289682.1:n.*169C>T
NM_001322421.2:c.*9C>T	NP_001309350.1:n.*9C>T
NM_001322422.2:c.*9C>T	NP_001309351.1:n.*9C>T
NM_001362758.2:c.*169C>T	NP_001349687.1:n.*169C>T
NM_152854.4:c.*169C>T	NP_690593.1:n.*169C>T
NR_126502.2:n.876C>T
NR_136327.2:n.779C>T