Canonical Allele Identifier: CA9888401
Gene: CD40 HGNC NCBI

Linked Data

ClinVar Variation Id: 439466
dbSNP Id: rs774195387

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46122360T>C , CM000682.2:g.46122360T>C GRCh38
NC_000020.10:g.44750999T>C , CM000682.1:g.44750999T>C GRCh37
NC_000020.9:g.44184406T>C NCBI36
NG_007279.1:g.9094T>C , LRG_40:g.9094T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.352+2T>C ENSP00000512095.1:n.352+2T>C
ENST00000489304.6:c.256+2T>C ENSP00000512096.1:n.256+2T>C
ENST00000695669.1:n.329+2T>C
ENST00000695670.1:n.236+2T>C
ENST00000695671.1:c.256+2T>C ENSP00000512093.1:n.256+2T>C
ENST00000695672.1:n.181+2T>C
ENST00000695673.1:n.121+2T>C
ENST00000372285.8:c.256+2T>C MANE Select ENSP00000361359.3:n.256+2T>C
ENST00000372276.7:c.256+2T>C ENSP00000361350.3:n.256+2T>C
ENST00000372285.7:c.256+2T>C ENSP00000361359.3:n.256+2T>C
ENST00000461171.1:n.41+2T>C
ENST00000466205.5:c.252+2T>C
ENST00000477696.5:n.323+2T>C
ENST00000489304.5:n.249+2T>C
ENST00000620709.4:c.256+2T>C ENSP00000484074.1:n.256+2T>C
NM_001250.5:c.256+2T>C NP_001241.1:n.256+2T>C
NM_001302753.1:c.256+2T>C NP_001289682.1:n.256+2T>C
NM_152854.3:c.256+2T>C NP_690593.1:n.256+2T>C
NR_126502.1:n.346+2T>C
XM_005260617.2:c.256+2T>C XP_005260674.1:n.256+2T>C
XM_005260619.2:c.256+2T>C XP_005260676.1:n.256+2T>C
XM_011529109.1:c.256+2T>C XP_011527411.1:n.256+2T>C
XR_936660.1:n.350+2T>C
NM_001322421.1:c.256+2T>C NP_001309350.1:n.256+2T>C
NM_001322422.1:c.256+2T>C NP_001309351.1:n.256+2T>C
NM_001362758.1:c.256+2T>C NP_001349687.1:n.256+2T>C
NR_136327.1:n.346+2T>C
XM_005260619.3:c.256+2T>C XP_005260676.1:n.256+2T>C
XM_011529109.2:c.256+2T>C XP_011527411.1:n.256+2T>C
XM_017028135.1:c.256+2T>C XP_016883624.1:n.256+2T>C
XM_017028136.1:c.256+2T>C XP_016883625.1:n.256+2T>C
NM_001250.6:c.256+2T>C MANE Select NP_001241.1:n.256+2T>C
NM_001302753.2:c.256+2T>C NP_001289682.1:n.256+2T>C
NM_001322421.2:c.256+2T>C NP_001309350.1:n.256+2T>C
NM_001322422.2:c.256+2T>C NP_001309351.1:n.256+2T>C
NM_001362758.2:c.256+2T>C NP_001349687.1:n.256+2T>C
NM_152854.4:c.256+2T>C NP_690593.1:n.256+2T>C
NR_126502.2:n.286+2T>C
NR_136327.2:n.286+2T>C