Canonical Allele Identifier: CA510657883

Gene: CD40

Linked Data

• dbSNP Id: rs2085500307
• gnomAD v3: 20-46129028-G-A
• gnomAD v4: 20-46129028-G-A
• MyVariant Identifiers: chr20:g.44757667G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129028G>A , CM000682.2:g.46129028G>A	GRCh38
NC_000020.10:g.44757667G>A , CM000682.1:g.44757667G>A	GRCh37
NC_000020.9:g.44191074G>A	NCBI36
NG_007279.1:g.15762G>A , LRG_40:g.15762G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.905G>A	ENSP00000512096.1:n.905G>A
ENST00000695675.1:n.2698G>A
ENST00000372285.8:c.822G>A MANE Select	ENSP00000361359.3:p.Gln274=
ENST00000372276.7:c.*148G>A	ENSP00000361350.3:n.*148G>A
ENST00000372285.7:c.822G>A	ENSP00000361359.3:p.Gln274=
ENST00000466205.5:c.724G>A
ENST00000489304.5:n.898G>A
ENST00000620709.4:c.*369G>A	ENSP00000484074.1:n.*369G>A
NM_001250.5:c.822G>A	NP_001241.1:p.Gln274=
NM_001302753.1:c.*148G>A	NP_001289682.1:n.*148G>A
NM_152854.3:c.*148G>A	NP_690593.1:n.*148G>A
NR_126502.1:n.915G>A
XM_005260617.2:c.834G>A	XP_005260674.1:p.Gln278=
XM_005260619.2:c.678G>A	XP_005260676.1:p.Gln226=
XR_936660.1:n.822G>A
NM_001322421.1:c.834G>A	NP_001309350.1:p.Gln278=
NM_001322422.1:c.666G>A	NP_001309351.1:p.Gln222=
NM_001362758.1:c.*148G>A	NP_001349687.1:n.*148G>A
NR_136327.1:n.818G>A
XM_005260619.3:c.678G>A	XP_005260676.1:p.Gln226=
XM_017028135.1:c.857G>A	XP_016883624.1:p.Arg286Lys
XM_017028136.1:c.755G>A	XP_016883625.1:p.Arg252Lys
NM_001250.6:c.822G>A MANE Select	NP_001241.1:p.Gln274=
NM_001302753.2:c.*148G>A	NP_001289682.1:n.*148G>A
NM_001322421.2:c.834G>A	NP_001309350.1:p.Gln278=
NM_001322422.2:c.666G>A	NP_001309351.1:p.Gln222=
NM_001362758.2:c.*148G>A	NP_001349687.1:n.*148G>A
NM_152854.4:c.*148G>A	NP_690593.1:n.*148G>A
NR_126502.2:n.855G>A
NR_136327.2:n.758G>A