Canonical Allele Identifier: CA9888385

Gene: CD40

Linked Data

• ClinVar Variation Id: 1586111
• ClinVar RCV Id: RCV002098035
• dbSNP Id: rs541686651
• ExAC: 20:44750888 T / C
• gnomAD v2: 20-44750888-T-C
• gnomAD v3: 20-46122249-T-C
• gnomAD v4: 20-46122249-T-C
• MyVariant Identifiers: chr20:g.44750888T>C (hg19) ; chr20:g.46122249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122249T>C , CM000682.2:g.46122249T>C	GRCh38
NC_000020.10:g.44750888T>C , CM000682.1:g.44750888T>C	GRCh37
NC_000020.9:g.44184295T>C	NCBI36
NG_007279.1:g.8983T>C , LRG_40:g.8983T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.243T>C	ENSP00000512095.1:n.243T>C
ENST00000489304.6:c.147T>C	ENSP00000512096.1:p.Ser49=
ENST00000695669.1:n.220T>C
ENST00000695670.1:n.127T>C
ENST00000695671.1:c.147T>C	ENSP00000512093.1:p.Ser49=
ENST00000695672.1:n.72T>C
ENST00000695673.1:n.12T>C
ENST00000372285.8:c.147T>C MANE Select	ENSP00000361359.3:p.Ser49=
ENST00000372276.7:c.147T>C	ENSP00000361350.3:p.Ser49=
ENST00000372285.7:c.147T>C	ENSP00000361359.3:p.Ser49=
ENST00000466205.5:c.143T>C
ENST00000477696.5:n.214T>C
ENST00000489304.5:n.140T>C
ENST00000620709.4:c.147T>C	ENSP00000484074.1:p.Ser49=
NM_001250.5:c.147T>C	NP_001241.1:p.Ser49=
NM_001302753.1:c.147T>C	NP_001289682.1:p.Ser49=
NM_152854.3:c.147T>C	NP_690593.1:p.Ser49=
NR_126502.1:n.237T>C
XM_005260617.2:c.147T>C	XP_005260674.1:p.Ser49=
XM_005260619.2:c.147T>C	XP_005260676.1:p.Ser49=
XM_011529109.1:c.147T>C	XP_011527411.1:p.Ser49=
XR_936660.1:n.241T>C
NM_001322421.1:c.147T>C	NP_001309350.1:p.Ser49=
NM_001322422.1:c.147T>C	NP_001309351.1:p.Ser49=
NM_001362758.1:c.147T>C	NP_001349687.1:p.Ser49=
NR_136327.1:n.237T>C
XM_005260619.3:c.147T>C	XP_005260676.1:p.Ser49=
XM_011529109.2:c.147T>C	XP_011527411.1:p.Ser49=
XM_017028135.1:c.147T>C	XP_016883624.1:p.Ser49=
XM_017028136.1:c.147T>C	XP_016883625.1:p.Ser49=
NM_001250.6:c.147T>C MANE Select	NP_001241.1:p.Ser49=
NM_001302753.2:c.147T>C	NP_001289682.1:p.Ser49=
NM_001322421.2:c.147T>C	NP_001309350.1:p.Ser49=
NM_001322422.2:c.147T>C	NP_001309351.1:p.Ser49=
NM_001362758.2:c.147T>C	NP_001349687.1:p.Ser49=
NM_152854.4:c.147T>C	NP_690593.1:p.Ser49=
NR_126502.2:n.177T>C
NR_136327.2:n.177T>C