Canonical Allele Identifier: CA2653134000

Gene: CD40

Linked Data

• gnomAD v4: 20-46129106-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129106G>T , CM000682.2:g.46129106G>T	GRCh38
NC_000020.10:g.44757745G>T , CM000682.1:g.44757745G>T	GRCh37
NC_000020.9:g.44191152G>T	NCBI36
NG_007279.1:g.15840G>T , LRG_40:g.15840G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.983G>T	ENSP00000512096.1:n.983G>T
ENST00000695675.1:n.2776G>T
ENST00000372285.8:c.*66G>T MANE Select	ENSP00000361359.3:n.*66G>T
ENST00000372276.7:c.*226G>T	ENSP00000361350.3:n.*226G>T
ENST00000372285.7:c.*66G>T	ENSP00000361359.3:n.*66G>T
ENST00000466205.5:c.802G>T
ENST00000489304.5:n.976G>T
ENST00000620709.4:c.*447G>T	ENSP00000484074.1:n.*447G>T
NM_001250.5:c.*66G>T	NP_001241.1:n.*66G>T
NM_001302753.1:c.*226G>T	NP_001289682.1:n.*226G>T
NM_152854.3:c.*226G>T	NP_690593.1:n.*226G>T
NR_126502.1:n.993G>T
XM_005260617.2:c.*66G>T	XP_005260674.1:n.*66G>T
XM_005260619.2:c.*66G>T	XP_005260676.1:n.*66G>T
NM_001322421.1:c.*66G>T	NP_001309350.1:n.*66G>T
NM_001322422.1:c.*66G>T	NP_001309351.1:n.*66G>T
NM_001362758.1:c.*226G>T	NP_001349687.1:n.*226G>T
NR_136327.1:n.896G>T
XM_005260619.3:c.*66G>T	XP_005260676.1:n.*66G>T
XM_017028135.1:c.935G>T	XP_016883624.1:p.Cys312Phe
XM_017028136.1:c.833G>T	XP_016883625.1:p.Cys278Phe
NM_001250.6:c.*66G>T MANE Select	NP_001241.1:n.*66G>T
NM_001302753.2:c.*226G>T	NP_001289682.1:n.*226G>T
NM_001322421.2:c.*66G>T	NP_001309350.1:n.*66G>T
NM_001322422.2:c.*66G>T	NP_001309351.1:n.*66G>T
NM_001362758.2:c.*226G>T	NP_001349687.1:n.*226G>T
NM_152854.4:c.*226G>T	NP_690593.1:n.*226G>T
NR_126502.2:n.933G>T
NR_136327.2:n.836G>T