Canonical Allele Identifier: CA9888328

Gene: CD40

Linked Data

• ClinVar Variation Id: 338569
• ClinVar RCV Id: RCV000456068 ; RCV000608869 ; RCV001691965
• dbSNP Id: rs1883832
• ExAC: 20:44746982 T / C
• gnomAD v2: 20-44746982-T-C
• gnomAD v3: 20-46118343-T-C
• gnomAD v4: 20-46118343-T-C
• MyVariant Identifiers: chr20:g.44746982T>C (hg19) ; chr20:g.46118343T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46118343T>C , CM000682.2:g.46118343T>C	GRCh38
NC_000020.10:g.44746982T>C , CM000682.1:g.44746982T>C	GRCh37
NC_000020.9:g.44180389T>C	NCBI36
NG_007279.1:g.5077T>C , LRG_40:g.5077T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695669.1:n.73T>C
ENST00000695670.1:n.59T>C
ENST00000695671.1:c.-1T>C	ENSP00000512093.1:n.-1T>C
ENST00000695672.1:n.4T>C
ENST00000372285.8:c.-1T>C MANE Select	ENSP00000361359.3:n.-1T>C
ENST00000372276.7:c.-1T>C	ENSP00000361350.3:n.-1T>C
ENST00000372285.7:c.-1T>C	ENSP00000361359.3:n.-1T>C
ENST00000620709.4:c.-1T>C	ENSP00000484074.1:n.-1T>C
NM_001250.5:c.-1T>C	NP_001241.1:n.-1T>C
NM_001302753.1:c.-1T>C	NP_001289682.1:n.-1T>C
NM_152854.3:c.-1T>C	NP_690593.1:n.-1T>C
NR_126502.1:n.90T>C
XM_005260617.2:c.-1T>C	XP_005260674.1:n.-1T>C
XM_005260619.2:c.-1T>C	XP_005260676.1:n.-1T>C
XM_011529109.1:c.-1T>C	XP_011527411.1:n.-1T>C
XR_936660.1:n.94T>C
NM_001322421.1:c.-1T>C	NP_001309350.1:n.-1T>C
NM_001322422.1:c.-1T>C	NP_001309351.1:n.-1T>C
NM_001362758.1:c.-1T>C	NP_001349687.1:n.-1T>C
NR_136327.1:n.90T>C
XM_005260619.3:c.-1T>C	XP_005260676.1:n.-1T>C
XM_011529109.2:c.-1T>C	XP_011527411.1:n.-1T>C
XM_017028135.1:c.-1T>C	XP_016883624.1:n.-1T>C
XM_017028136.1:c.-1T>C	XP_016883625.1:n.-1T>C
NM_001250.6:c.-1T>C MANE Select	NP_001241.1:n.-1T>C
NM_001302753.2:c.-1T>C	NP_001289682.1:n.-1T>C
NM_001322421.2:c.-1T>C	NP_001309350.1:n.-1T>C
NM_001322422.2:c.-1T>C	NP_001309351.1:n.-1T>C
NM_001362758.2:c.-1T>C	NP_001349687.1:n.-1T>C
NM_152854.4:c.-1T>C	NP_690593.1:n.-1T>C
NR_126502.2:n.30T>C
NR_136327.2:n.30T>C