Canonical Allele Identifier: CA9888451

Gene: CD40

Linked Data

• ClinVar Variation Id: 338573
• ClinVar RCV Id: RCV001000340 ; RCV001519404
• dbSNP Id: rs11569321
• ExAC: 20:44751363 C / T
• gnomAD v2: 20-44751363-C-T
• gnomAD v3: 20-46122724-C-T
• gnomAD v4: 20-46122724-C-T
• MyVariant Identifiers: chr20:g.44751363C>T (hg19) ; chr20:g.46122724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122724C>T , CM000682.2:g.46122724C>T	GRCh38
NC_000020.10:g.44751363C>T , CM000682.1:g.44751363C>T	GRCh37
NC_000020.9:g.44184770C>T	NCBI36
NG_007279.1:g.9458C>T , LRG_40:g.9458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.467C>T	ENSP00000512095.1:n.467C>T
ENST00000489304.6:c.371C>T	ENSP00000512096.1:p.Ser124Leu
ENST00000695669.1:n.444C>T
ENST00000695670.1:n.351C>T
ENST00000695671.1:c.371C>T	ENSP00000512093.1:p.Ser124Leu
ENST00000695672.1:n.296C>T
ENST00000695673.1:n.236C>T
ENST00000372285.8:c.371C>T MANE Select	ENSP00000361359.3:p.Ser124Leu
ENST00000372276.7:c.371C>T	ENSP00000361350.3:p.Ser124Leu
ENST00000372285.7:c.371C>T	ENSP00000361359.3:p.Ser124Leu
ENST00000461171.1:n.156C>T
ENST00000466205.5:c.367C>T
ENST00000477696.5:n.438C>T
ENST00000489304.5:n.364C>T
ENST00000620709.4:c.371C>T	ENSP00000484074.1:p.Ser124Leu
NM_001250.5:c.371C>T	NP_001241.1:p.Ser124Leu
NM_001302753.1:c.371C>T	NP_001289682.1:p.Ser124Leu
NM_152854.3:c.371C>T	NP_690593.1:p.Ser124Leu
NR_126502.1:n.461C>T
XM_005260617.2:c.371C>T	XP_005260674.1:p.Ser124Leu
XM_005260619.2:c.371C>T	XP_005260676.1:p.Ser124Leu
XM_011529109.1:c.371C>T	XP_011527411.1:p.Ser124Leu
XR_936660.1:n.465C>T
NM_001322421.1:c.371C>T	NP_001309350.1:p.Ser124Leu
NM_001322422.1:c.371C>T	NP_001309351.1:p.Ser124Leu
NM_001362758.1:c.371C>T	NP_001349687.1:p.Ser124Leu
NR_136327.1:n.461C>T
XM_005260619.3:c.371C>T	XP_005260676.1:p.Ser124Leu
XM_011529109.2:c.371C>T	XP_011527411.1:p.Ser124Leu
XM_017028135.1:c.371C>T	XP_016883624.1:p.Ser124Leu
XM_017028136.1:c.371C>T	XP_016883625.1:p.Ser124Leu
NM_001250.6:c.371C>T MANE Select	NP_001241.1:p.Ser124Leu
NM_001302753.2:c.371C>T	NP_001289682.1:p.Ser124Leu
NM_001322421.2:c.371C>T	NP_001309350.1:p.Ser124Leu
NM_001322422.2:c.371C>T	NP_001309351.1:p.Ser124Leu
NM_001362758.2:c.371C>T	NP_001349687.1:p.Ser124Leu
NM_152854.4:c.371C>T	NP_690593.1:p.Ser124Leu
NR_126502.2:n.401C>T
NR_136327.2:n.401C>T