Canonical Allele Identifier: CA9888401

Gene: CD40

Linked Data

• ClinVar Variation Id: 439466
• ClinVar RCV Id: RCV000506361 ; RCV001333032 ; RCV004527380
• dbSNP Id: rs774195387
• ExAC: 20:44750999 T / C
• gnomAD v2: 20-44750999-T-C
• gnomAD v4: 20-46122360-T-C
• MyVariant Identifiers: chr20:g.44750999T>C (hg19) ; chr20:g.46122360T>C (hg38)

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