Canonical Allele Identifier: CA9888388

Gene: CD40

Linked Data

• ClinVar Variation Id: 1907044
• ClinVar RCV Id: RCV002577936
• dbSNP Id: rs752136889
• ExAC: 20:44750906 T / C
• gnomAD v2: 20-44750906-T-C
• gnomAD v4: 20-46122267-T-C
• MyVariant Identifiers: chr20:g.44750906T>C (hg19) ; chr20:g.46122267T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122267T>C , CM000682.2:g.46122267T>C	GRCh38
NC_000020.10:g.44750906T>C , CM000682.1:g.44750906T>C	GRCh37
NC_000020.9:g.44184313T>C	NCBI36
NG_007279.1:g.9001T>C , LRG_40:g.9001T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.261T>C	ENSP00000512095.1:n.261T>C
ENST00000489304.6:c.165T>C	ENSP00000512096.1:p.Thr55=
ENST00000695669.1:n.238T>C
ENST00000695670.1:n.145T>C
ENST00000695671.1:c.165T>C	ENSP00000512093.1:p.Thr55=
ENST00000695672.1:n.90T>C
ENST00000695673.1:n.30T>C
ENST00000372285.8:c.165T>C MANE Select	ENSP00000361359.3:p.Thr55=
ENST00000372276.7:c.165T>C	ENSP00000361350.3:p.Thr55=
ENST00000372285.7:c.165T>C	ENSP00000361359.3:p.Thr55=
ENST00000466205.5:c.161T>C
ENST00000477696.5:n.232T>C
ENST00000489304.5:n.158T>C
ENST00000620709.4:c.165T>C	ENSP00000484074.1:p.Thr55=
NM_001250.5:c.165T>C	NP_001241.1:p.Thr55=
NM_001302753.1:c.165T>C	NP_001289682.1:p.Thr55=
NM_152854.3:c.165T>C	NP_690593.1:p.Thr55=
NR_126502.1:n.255T>C
XM_005260617.2:c.165T>C	XP_005260674.1:p.Thr55=
XM_005260619.2:c.165T>C	XP_005260676.1:p.Thr55=
XM_011529109.1:c.165T>C	XP_011527411.1:p.Thr55=
XR_936660.1:n.259T>C
NM_001322421.1:c.165T>C	NP_001309350.1:p.Thr55=
NM_001322422.1:c.165T>C	NP_001309351.1:p.Thr55=
NM_001362758.1:c.165T>C	NP_001349687.1:p.Thr55=
NR_136327.1:n.255T>C
XM_005260619.3:c.165T>C	XP_005260676.1:p.Thr55=
XM_011529109.2:c.165T>C	XP_011527411.1:p.Thr55=
XM_017028135.1:c.165T>C	XP_016883624.1:p.Thr55=
XM_017028136.1:c.165T>C	XP_016883625.1:p.Thr55=
NM_001250.6:c.165T>C MANE Select	NP_001241.1:p.Thr55=
NM_001302753.2:c.165T>C	NP_001289682.1:p.Thr55=
NM_001322421.2:c.165T>C	NP_001309350.1:p.Thr55=
NM_001322422.2:c.165T>C	NP_001309351.1:p.Thr55=
NM_001362758.2:c.165T>C	NP_001349687.1:p.Thr55=
NM_152854.4:c.165T>C	NP_690593.1:p.Thr55=
NR_126502.2:n.195T>C
NR_136327.2:n.195T>C