Canonical Allele Identifier: CA9888652

Gene: CD40

Linked Data

• ClinVar Variation Id: 782170
• ClinVar RCV Id: RCV000963530
• dbSNP Id: rs148342289
• ExAC: 20:44757526 C / T
• gnomAD v2: 20-44757526-C-T
• gnomAD v3: 20-46128887-C-T
• gnomAD v4: 20-46128887-C-T
• MyVariant Identifiers: chr20:g.44757526C>T (hg19) ; chr20:g.46128887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128887C>T , CM000682.2:g.46128887C>T	GRCh38
NC_000020.10:g.44757526C>T , CM000682.1:g.44757526C>T	GRCh37
NC_000020.9:g.44190933C>T	NCBI36
NG_007279.1:g.15621C>T , LRG_40:g.15621C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.683C>T	ENSP00000512095.1:n.683C>T
ENST00000489304.6:c.764C>T	ENSP00000512096.1:n.764C>T
ENST00000695675.1:n.2557C>T
ENST00000372285.8:c.681C>T MANE Select	ENSP00000361359.3:p.Pro227=
ENST00000372276.7:c.*7C>T	ENSP00000361350.3:n.*7C>T
ENST00000372285.7:c.681C>T	ENSP00000361359.3:p.Pro227=
ENST00000466205.5:c.583C>T
ENST00000477696.5:n.654C>T
ENST00000489304.5:n.757C>T
ENST00000620709.4:c.*228C>T	ENSP00000484074.1:n.*228C>T
NM_001250.5:c.681C>T	NP_001241.1:p.Pro227=
NM_001302753.1:c.*7C>T	NP_001289682.1:n.*7C>T
NM_152854.3:c.*7C>T	NP_690593.1:n.*7C>T
NR_126502.1:n.774C>T
XM_005260617.2:c.693C>T	XP_005260674.1:p.Pro231=
XM_005260619.2:c.537C>T	XP_005260676.1:p.Pro179=
XR_936660.1:n.681C>T
NM_001322421.1:c.693C>T	NP_001309350.1:p.Pro231=
NM_001322422.1:c.525C>T	NP_001309351.1:p.Pro175=
NM_001362758.1:c.*7C>T	NP_001349687.1:n.*7C>T
NR_136327.1:n.677C>T
XM_005260619.3:c.537C>T	XP_005260676.1:p.Pro179=
XM_017028135.1:c.716C>T	XP_016883624.1:p.Pro239Leu
XM_017028136.1:c.614C>T	XP_016883625.1:p.Pro205Leu
NM_001250.6:c.681C>T MANE Select	NP_001241.1:p.Pro227=
NM_001302753.2:c.*7C>T	NP_001289682.1:n.*7C>T
NM_001322421.2:c.693C>T	NP_001309350.1:p.Pro231=
NM_001322422.2:c.525C>T	NP_001309351.1:p.Pro175=
NM_001362758.2:c.*7C>T	NP_001349687.1:n.*7C>T
NM_152854.4:c.*7C>T	NP_690593.1:n.*7C>T
NR_126502.2:n.714C>T
NR_136327.2:n.617C>T