Canonical Allele Identifier: CA2366533199

Gene: CD40

Linked Data

• dbSNP Id: rs2085500438
• gnomAD v4: 20-46129048-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129048C>T , CM000682.2:g.46129048C>T	GRCh38
NC_000020.10:g.44757687C>T , CM000682.1:g.44757687C>T	GRCh37
NC_000020.9:g.44191094C>T	NCBI36
NG_007279.1:g.15782C>T , LRG_40:g.15782C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.925C>T	ENSP00000512096.1:n.925C>T
ENST00000695675.1:n.2718C>T
ENST00000372285.8:c.*8C>T MANE Select	ENSP00000361359.3:n.*8C>T
ENST00000372276.7:c.*168C>T	ENSP00000361350.3:n.*168C>T
ENST00000372285.7:c.*8C>T	ENSP00000361359.3:n.*8C>T
ENST00000466205.5:c.744C>T
ENST00000489304.5:n.918C>T
ENST00000620709.4:c.*389C>T	ENSP00000484074.1:n.*389C>T
NM_001250.5:c.*8C>T	NP_001241.1:n.*8C>T
NM_001302753.1:c.*168C>T	NP_001289682.1:n.*168C>T
NM_152854.3:c.*168C>T	NP_690593.1:n.*168C>T
NR_126502.1:n.935C>T
XM_005260617.2:c.*8C>T	XP_005260674.1:n.*8C>T
XM_005260619.2:c.*8C>T	XP_005260676.1:n.*8C>T
XR_936660.1:n.842C>T
NM_001322421.1:c.*8C>T	NP_001309350.1:n.*8C>T
NM_001322422.1:c.*8C>T	NP_001309351.1:n.*8C>T
NM_001362758.1:c.*168C>T	NP_001349687.1:n.*168C>T
NR_136327.1:n.838C>T
XM_005260619.3:c.*8C>T	XP_005260676.1:n.*8C>T
XM_017028135.1:c.877C>T	XP_016883624.1:p.Pro293Ser
XM_017028136.1:c.775C>T	XP_016883625.1:p.Pro259Ser
NM_001250.6:c.*8C>T MANE Select	NP_001241.1:n.*8C>T
NM_001302753.2:c.*168C>T	NP_001289682.1:n.*168C>T
NM_001322421.2:c.*8C>T	NP_001309350.1:n.*8C>T
NM_001322422.2:c.*8C>T	NP_001309351.1:n.*8C>T
NM_001362758.2:c.*168C>T	NP_001349687.1:n.*168C>T
NM_152854.4:c.*168C>T	NP_690593.1:n.*168C>T
NR_126502.2:n.875C>T
NR_136327.2:n.778C>T