Canonical Allele Identifier: CA9888399

Gene: CD40

Linked Data

• ClinVar Variation Id: 3006276
• ClinVar RCV Id: RCV003866427
• dbSNP Id: rs748382649
• ExAC: 20:44750993 C / T
• gnomAD v2: 20-44750993-C-T
• gnomAD v3: 20-46122354-C-T
• gnomAD v4: 20-46122354-C-T
• MyVariant Identifiers: chr20:g.44750993C>T (hg19) ; chr20:g.46122354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122354C>T , CM000682.2:g.46122354C>T	GRCh38
NC_000020.10:g.44750993C>T , CM000682.1:g.44750993C>T	GRCh37
NC_000020.9:g.44184400C>T	NCBI36
NG_007279.1:g.9088C>T , LRG_40:g.9088C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.348C>T	ENSP00000512095.1:n.348C>T
ENST00000489304.6:c.252C>T	ENSP00000512096.1:p.Asp84=
ENST00000695669.1:n.325C>T
ENST00000695670.1:n.232C>T
ENST00000695671.1:c.252C>T	ENSP00000512093.1:p.Asp84=
ENST00000695672.1:n.177C>T
ENST00000695673.1:n.117C>T
ENST00000372285.8:c.252C>T MANE Select	ENSP00000361359.3:p.Asp84=
ENST00000372276.7:c.252C>T	ENSP00000361350.3:p.Asp84=
ENST00000372285.7:c.252C>T	ENSP00000361359.3:p.Asp84=
ENST00000461171.1:n.37C>T
ENST00000466205.5:c.248C>T
ENST00000477696.5:n.319C>T
ENST00000489304.5:n.245C>T
ENST00000620709.4:c.252C>T	ENSP00000484074.1:p.Asp84=
NM_001250.5:c.252C>T	NP_001241.1:p.Asp84=
NM_001302753.1:c.252C>T	NP_001289682.1:p.Asp84=
NM_152854.3:c.252C>T	NP_690593.1:p.Asp84=
NR_126502.1:n.342C>T
XM_005260617.2:c.252C>T	XP_005260674.1:p.Asp84=
XM_005260619.2:c.252C>T	XP_005260676.1:p.Asp84=
XM_011529109.1:c.252C>T	XP_011527411.1:p.Asp84=
XR_936660.1:n.346C>T
NM_001322421.1:c.252C>T	NP_001309350.1:p.Asp84=
NM_001322422.1:c.252C>T	NP_001309351.1:p.Asp84=
NM_001362758.1:c.252C>T	NP_001349687.1:p.Asp84=
NR_136327.1:n.342C>T
XM_005260619.3:c.252C>T	XP_005260676.1:p.Asp84=
XM_011529109.2:c.252C>T	XP_011527411.1:p.Asp84=
XM_017028135.1:c.252C>T	XP_016883624.1:p.Asp84=
XM_017028136.1:c.252C>T	XP_016883625.1:p.Asp84=
NM_001250.6:c.252C>T MANE Select	NP_001241.1:p.Asp84=
NM_001302753.2:c.252C>T	NP_001289682.1:p.Asp84=
NM_001322421.2:c.252C>T	NP_001309350.1:p.Asp84=
NM_001322422.2:c.252C>T	NP_001309351.1:p.Asp84=
NM_001362758.2:c.252C>T	NP_001349687.1:p.Asp84=
NM_152854.4:c.252C>T	NP_690593.1:p.Asp84=
NR_126502.2:n.282C>T
NR_136327.2:n.282C>T