Canonical Allele Identifier: CA9888448

Gene: CD40

Linked Data

• dbSNP Id: rs762684377
• ExAC: 20:44751350 G / T
• gnomAD v2: 20-44751350-G-T
• gnomAD v4: 20-46122711-G-T
• MyVariant Identifiers: chr20:g.44751350G>T (hg19) ; chr20:g.46122711G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122711G>T , CM000682.2:g.46122711G>T	GRCh38
NC_000020.10:g.44751350G>T , CM000682.1:g.44751350G>T	GRCh37
NC_000020.9:g.44184757G>T	NCBI36
NG_007279.1:g.9445G>T , LRG_40:g.9445G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.454G>T	ENSP00000512095.1:n.454G>T
ENST00000489304.6:c.358G>T	ENSP00000512096.1:p.Val120Phe
ENST00000695669.1:n.431G>T
ENST00000695670.1:n.338G>T
ENST00000695671.1:c.358G>T	ENSP00000512093.1:p.Val120Phe
ENST00000695672.1:n.283G>T
ENST00000695673.1:n.223G>T
ENST00000372285.8:c.358G>T MANE Select	ENSP00000361359.3:p.Val120Phe
ENST00000372276.7:c.358G>T	ENSP00000361350.3:p.Val120Phe
ENST00000372285.7:c.358G>T	ENSP00000361359.3:p.Val120Phe
ENST00000461171.1:n.143G>T
ENST00000466205.5:c.354G>T
ENST00000477696.5:n.425G>T
ENST00000489304.5:n.351G>T
ENST00000620709.4:c.358G>T	ENSP00000484074.1:p.Val120Phe
NM_001250.5:c.358G>T	NP_001241.1:p.Val120Phe
NM_001302753.1:c.358G>T	NP_001289682.1:p.Val120Phe
NM_152854.3:c.358G>T	NP_690593.1:p.Val120Phe
NR_126502.1:n.448G>T
XM_005260617.2:c.358G>T	XP_005260674.1:p.Val120Phe
XM_005260619.2:c.358G>T	XP_005260676.1:p.Val120Phe
XM_011529109.1:c.358G>T	XP_011527411.1:p.Val120Phe
XR_936660.1:n.452G>T
NM_001322421.1:c.358G>T	NP_001309350.1:p.Val120Phe
NM_001322422.1:c.358G>T	NP_001309351.1:p.Val120Phe
NM_001362758.1:c.358G>T	NP_001349687.1:p.Val120Phe
NR_136327.1:n.448G>T
XM_005260619.3:c.358G>T	XP_005260676.1:p.Val120Phe
XM_011529109.2:c.358G>T	XP_011527411.1:p.Val120Phe
XM_017028135.1:c.358G>T	XP_016883624.1:p.Val120Phe
XM_017028136.1:c.358G>T	XP_016883625.1:p.Val120Phe
NM_001250.6:c.358G>T MANE Select	NP_001241.1:p.Val120Phe
NM_001302753.2:c.358G>T	NP_001289682.1:p.Val120Phe
NM_001322421.2:c.358G>T	NP_001309350.1:p.Val120Phe
NM_001322422.2:c.358G>T	NP_001309351.1:p.Val120Phe
NM_001362758.2:c.358G>T	NP_001349687.1:p.Val120Phe
NM_152854.4:c.358G>T	NP_690593.1:p.Val120Phe
NR_126502.2:n.388G>T
NR_136327.2:n.388G>T