Canonical Allele Identifier: CA9888433

Gene: CD40

Linked Data

• ClinVar Variation Id: 2794271
• ClinVar RCV Id: RCV003672736
• dbSNP Id: rs752031207
• ExAC: 20:44751283 A / G
• gnomAD v2: 20-44751283-A-G
• gnomAD v3: 20-46122644-A-G
• gnomAD v4: 20-46122644-A-G
• MyVariant Identifiers: chr20:g.44751283A>G (hg19) ; chr20:g.46122644A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122644A>G , CM000682.2:g.46122644A>G	GRCh38
NC_000020.10:g.44751283A>G , CM000682.1:g.44751283A>G	GRCh37
NC_000020.9:g.44184690A>G	NCBI36
NG_007279.1:g.9378A>G , LRG_40:g.9378A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.387A>G	ENSP00000512095.1:n.387A>G
ENST00000489304.6:c.291A>G	ENSP00000512096.1:p.Ser97=
ENST00000695669.1:n.364A>G
ENST00000695670.1:n.271A>G
ENST00000695671.1:c.291A>G	ENSP00000512093.1:p.Ser97=
ENST00000695672.1:n.216A>G
ENST00000695673.1:n.156A>G
ENST00000372285.8:c.291A>G MANE Select	ENSP00000361359.3:p.Ser97=
ENST00000372276.7:c.291A>G	ENSP00000361350.3:p.Ser97=
ENST00000372285.7:c.291A>G	ENSP00000361359.3:p.Ser97=
ENST00000461171.1:n.76A>G
ENST00000466205.5:c.287A>G
ENST00000477696.5:n.358A>G
ENST00000489304.5:n.284A>G
ENST00000620709.4:c.291A>G	ENSP00000484074.1:p.Ser97=
NM_001250.5:c.291A>G	NP_001241.1:p.Ser97=
NM_001302753.1:c.291A>G	NP_001289682.1:p.Ser97=
NM_152854.3:c.291A>G	NP_690593.1:p.Ser97=
NR_126502.1:n.381A>G
XM_005260617.2:c.291A>G	XP_005260674.1:p.Ser97=
XM_005260619.2:c.291A>G	XP_005260676.1:p.Ser97=
XM_011529109.1:c.291A>G	XP_011527411.1:p.Ser97=
XR_936660.1:n.385A>G
NM_001322421.1:c.291A>G	NP_001309350.1:p.Ser97=
NM_001322422.1:c.291A>G	NP_001309351.1:p.Ser97=
NM_001362758.1:c.291A>G	NP_001349687.1:p.Ser97=
NR_136327.1:n.381A>G
XM_005260619.3:c.291A>G	XP_005260676.1:p.Ser97=
XM_011529109.2:c.291A>G	XP_011527411.1:p.Ser97=
XM_017028135.1:c.291A>G	XP_016883624.1:p.Ser97=
XM_017028136.1:c.291A>G	XP_016883625.1:p.Ser97=
NM_001250.6:c.291A>G MANE Select	NP_001241.1:p.Ser97=
NM_001302753.2:c.291A>G	NP_001289682.1:p.Ser97=
NM_001322421.2:c.291A>G	NP_001309350.1:p.Ser97=
NM_001322422.2:c.291A>G	NP_001309351.1:p.Ser97=
NM_001362758.2:c.291A>G	NP_001349687.1:p.Ser97=
NM_152854.4:c.291A>G	NP_690593.1:p.Ser97=
NR_126502.2:n.321A>G
NR_136327.2:n.321A>G