Canonical Allele Identifier: CA744875191

Gene: CD40

Linked Data

• dbSNP Id: rs1264746604
• gnomAD v3: 20-46129066-C-T
• gnomAD v4: 20-46129066-C-T
• MyVariant Identifiers: chr20:g.44757705C>T (hg19) ; chr20:g.46129066C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129066C>T , CM000682.2:g.46129066C>T	GRCh38
NC_000020.10:g.44757705C>T , CM000682.1:g.44757705C>T	GRCh37
NC_000020.9:g.44191112C>T	NCBI36
NG_007279.1:g.15800C>T , LRG_40:g.15800C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.943C>T	ENSP00000512096.1:n.943C>T
ENST00000695675.1:n.2736C>T
ENST00000372285.8:c.*26C>T MANE Select	ENSP00000361359.3:n.*26C>T
ENST00000372276.7:c.*186C>T	ENSP00000361350.3:n.*186C>T
ENST00000372285.7:c.*26C>T	ENSP00000361359.3:n.*26C>T
ENST00000466205.5:c.762C>T
ENST00000489304.5:n.936C>T
ENST00000620709.4:c.*407C>T	ENSP00000484074.1:n.*407C>T
NM_001250.5:c.*26C>T	NP_001241.1:n.*26C>T
NM_001302753.1:c.*186C>T	NP_001289682.1:n.*186C>T
NM_152854.3:c.*186C>T	NP_690593.1:n.*186C>T
NR_126502.1:n.953C>T
XM_005260617.2:c.*26C>T	XP_005260674.1:n.*26C>T
XM_005260619.2:c.*26C>T	XP_005260676.1:n.*26C>T
NM_001322421.1:c.*26C>T	NP_001309350.1:n.*26C>T
NM_001322422.1:c.*26C>T	NP_001309351.1:n.*26C>T
NM_001362758.1:c.*186C>T	NP_001349687.1:n.*186C>T
NR_136327.1:n.856C>T
XM_005260619.3:c.*26C>T	XP_005260676.1:n.*26C>T
XM_017028135.1:c.895C>T	XP_016883624.1:p.His299Tyr
XM_017028136.1:c.793C>T	XP_016883625.1:p.His265Tyr
NM_001250.6:c.*26C>T MANE Select	NP_001241.1:n.*26C>T
NM_001302753.2:c.*186C>T	NP_001289682.1:n.*186C>T
NM_001322421.2:c.*26C>T	NP_001309350.1:n.*26C>T
NM_001322422.2:c.*26C>T	NP_001309351.1:n.*26C>T
NM_001362758.2:c.*186C>T	NP_001349687.1:n.*186C>T
NM_152854.4:c.*186C>T	NP_690593.1:n.*186C>T
NR_126502.2:n.893C>T
NR_136327.2:n.796C>T