Canonical Allele Identifier: CA2653134053

Gene: CD40

Linked Data

• gnomAD v4: 20-46129136-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129136G>T , CM000682.2:g.46129136G>T	GRCh38
NC_000020.10:g.44757775G>T , CM000682.1:g.44757775G>T	GRCh37
NC_000020.9:g.44191182G>T	NCBI36
NG_007279.1:g.15870G>T , LRG_40:g.15870G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1013G>T	ENSP00000512096.1:n.1013G>T
ENST00000695675.1:n.2806G>T
ENST00000372285.8:c.*96G>T MANE Select	ENSP00000361359.3:n.*96G>T
ENST00000372276.7:c.*256G>T	ENSP00000361350.3:n.*256G>T
ENST00000372285.7:c.*96G>T	ENSP00000361359.3:n.*96G>T
ENST00000489304.5:n.1006G>T
ENST00000620709.4:c.*477G>T	ENSP00000484074.1:n.*477G>T
NM_001250.5:c.*96G>T	NP_001241.1:n.*96G>T
NM_001302753.1:c.*256G>T	NP_001289682.1:n.*256G>T
NM_152854.3:c.*256G>T	NP_690593.1:n.*256G>T
NR_126502.1:n.1023G>T
XM_005260617.2:c.*96G>T	XP_005260674.1:n.*96G>T
XM_005260619.2:c.*96G>T	XP_005260676.1:n.*96G>T
NM_001322421.1:c.*96G>T	NP_001309350.1:n.*96G>T
NM_001322422.1:c.*96G>T	NP_001309351.1:n.*96G>T
NM_001362758.1:c.*256G>T	NP_001349687.1:n.*256G>T
NR_136327.1:n.926G>T
XM_005260619.3:c.*96G>T	XP_005260676.1:n.*96G>T
XM_017028135.1:c.965G>T	XP_016883624.1:p.Trp322Leu
XM_017028136.1:c.863G>T	XP_016883625.1:p.Trp288Leu
NM_001250.6:c.*96G>T MANE Select	NP_001241.1:n.*96G>T
NM_001302753.2:c.*256G>T	NP_001289682.1:n.*256G>T
NM_001322421.2:c.*96G>T	NP_001309350.1:n.*96G>T
NM_001322422.2:c.*96G>T	NP_001309351.1:n.*96G>T
NM_001362758.2:c.*256G>T	NP_001349687.1:n.*256G>T
NM_152854.4:c.*256G>T	NP_690593.1:n.*256G>T
NR_126502.2:n.963G>T
NR_136327.2:n.866G>T