Canonical Allele Identifier: CA9888457

Gene: CD40

Linked Data

• ClinVar Variation Id: 2743469
• ClinVar RCV Id: RCV003560407
• dbSNP Id: rs757465117
• ExAC: 20:44751376 C / A
• gnomAD v2: 20-44751376-C-A
• gnomAD v4: 20-46122737-C-A
• MyVariant Identifiers: chr20:g.44751376C>A (hg19) ; chr20:g.46122737C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122737C>A , CM000682.2:g.46122737C>A	GRCh38
NC_000020.10:g.44751376C>A , CM000682.1:g.44751376C>A	GRCh37
NC_000020.9:g.44184783C>A	NCBI36
NG_007279.1:g.9471C>A , LRG_40:g.9471C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.480C>A	ENSP00000512095.1:n.480C>A
ENST00000489304.6:c.384C>A	ENSP00000512096.1:p.Gly128=
ENST00000695669.1:n.457C>A
ENST00000695670.1:n.364C>A
ENST00000695671.1:c.384C>A	ENSP00000512093.1:p.Gly128=
ENST00000695672.1:n.309C>A
ENST00000695673.1:n.249C>A
ENST00000372285.8:c.384C>A MANE Select	ENSP00000361359.3:p.Gly128=
ENST00000372276.7:c.384C>A	ENSP00000361350.3:p.Gly128=
ENST00000372285.7:c.384C>A	ENSP00000361359.3:p.Gly128=
ENST00000461171.1:n.169C>A
ENST00000466205.5:c.380C>A
ENST00000477696.5:n.451C>A
ENST00000489304.5:n.377C>A
ENST00000620709.4:c.384C>A	ENSP00000484074.1:p.Gly128=
NM_001250.5:c.384C>A	NP_001241.1:p.Gly128=
NM_001302753.1:c.384C>A	NP_001289682.1:p.Gly128=
NM_152854.3:c.384C>A	NP_690593.1:p.Gly128=
NR_126502.1:n.474C>A
XM_005260617.2:c.384C>A	XP_005260674.1:p.Gly128=
XM_005260619.2:c.384C>A	XP_005260676.1:p.Gly128=
XM_011529109.1:c.384C>A	XP_011527411.1:p.Gly128=
XR_936660.1:n.478C>A
NM_001322421.1:c.384C>A	NP_001309350.1:p.Gly128=
NM_001322422.1:c.384C>A	NP_001309351.1:p.Gly128=
NM_001362758.1:c.384C>A	NP_001349687.1:p.Gly128=
NR_136327.1:n.474C>A
XM_005260619.3:c.384C>A	XP_005260676.1:p.Gly128=
XM_011529109.2:c.384C>A	XP_011527411.1:p.Gly128=
XM_017028135.1:c.384C>A	XP_016883624.1:p.Gly128=
XM_017028136.1:c.384C>A	XP_016883625.1:p.Gly128=
NM_001250.6:c.384C>A MANE Select	NP_001241.1:p.Gly128=
NM_001302753.2:c.384C>A	NP_001289682.1:p.Gly128=
NM_001322421.2:c.384C>A	NP_001309350.1:p.Gly128=
NM_001322422.2:c.384C>A	NP_001309351.1:p.Gly128=
NM_001362758.2:c.384C>A	NP_001349687.1:p.Gly128=
NM_152854.4:c.384C>A	NP_690593.1:p.Gly128=
NR_126502.2:n.414C>A
NR_136327.2:n.414C>A