Canonical Allele Identifier: CA510657835

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757589T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128950T>A , CM000682.2:g.46128950T>A	GRCh38
NC_000020.10:g.44757589T>A , CM000682.1:g.44757589T>A	GRCh37
NC_000020.9:g.44190996T>A	NCBI36
NG_007279.1:g.15684T>A , LRG_40:g.15684T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.746T>A	ENSP00000512095.1:n.746T>A
ENST00000489304.6:c.827T>A	ENSP00000512096.1:n.827T>A
ENST00000695675.1:n.2620T>A
ENST00000372285.8:c.744T>A MANE Select	ENSP00000361359.3:p.Ala248=
ENST00000372276.7:c.*70T>A	ENSP00000361350.3:n.*70T>A
ENST00000372285.7:c.744T>A	ENSP00000361359.3:p.Ala248=
ENST00000466205.5:c.646T>A
ENST00000477696.5:n.717T>A
ENST00000489304.5:n.820T>A
ENST00000620709.4:c.*291T>A	ENSP00000484074.1:n.*291T>A
NM_001250.5:c.744T>A	NP_001241.1:p.Ala248=
NM_001302753.1:c.*70T>A	NP_001289682.1:n.*70T>A
NM_152854.3:c.*70T>A	NP_690593.1:n.*70T>A
NR_126502.1:n.837T>A
XM_005260617.2:c.756T>A	XP_005260674.1:p.Ala252=
XM_005260619.2:c.600T>A	XP_005260676.1:p.Ala200=
XR_936660.1:n.744T>A
NM_001322421.1:c.756T>A	NP_001309350.1:p.Ala252=
NM_001322422.1:c.588T>A	NP_001309351.1:p.Ala196=
NM_001362758.1:c.*70T>A	NP_001349687.1:n.*70T>A
NR_136327.1:n.740T>A
XM_005260619.3:c.600T>A	XP_005260676.1:p.Ala200=
XM_017028135.1:c.779T>A	XP_016883624.1:p.Leu260Gln
XM_017028136.1:c.677T>A	XP_016883625.1:p.Leu226Gln
NM_001250.6:c.744T>A MANE Select	NP_001241.1:p.Ala248=
NM_001302753.2:c.*70T>A	NP_001289682.1:n.*70T>A
NM_001322421.2:c.756T>A	NP_001309350.1:p.Ala252=
NM_001322422.2:c.588T>A	NP_001309351.1:p.Ala196=
NM_001362758.2:c.*70T>A	NP_001349687.1:n.*70T>A
NM_152854.4:c.*70T>A	NP_690593.1:n.*70T>A
NR_126502.2:n.777T>A
NR_136327.2:n.680T>A