Canonical Allele Identifier: CA510657895

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757678G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129039G>A , CM000682.2:g.46129039G>A	GRCh38
NC_000020.10:g.44757678G>A , CM000682.1:g.44757678G>A	GRCh37
NC_000020.9:g.44191085G>A	NCBI36
NG_007279.1:g.15773G>A , LRG_40:g.15773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.916G>A	ENSP00000512096.1:n.916G>A
ENST00000695675.1:n.2709G>A
ENST00000372285.8:c.833G>A MANE Select	ENSP00000361359.3:p.Ter278=
ENST00000372276.7:c.*159G>A	ENSP00000361350.3:n.*159G>A
ENST00000372285.7:c.833G>A	ENSP00000361359.3:p.Ter278=
ENST00000466205.5:c.735G>A
ENST00000489304.5:n.909G>A
ENST00000620709.4:c.*380G>A	ENSP00000484074.1:n.*380G>A
NM_001250.5:c.833G>A	NP_001241.1:p.Ter278=
NM_001302753.1:c.*159G>A	NP_001289682.1:n.*159G>A
NM_152854.3:c.*159G>A	NP_690593.1:n.*159G>A
NR_126502.1:n.926G>A
XM_005260617.2:c.845G>A	XP_005260674.1:p.Ter282=
XM_005260619.2:c.689G>A	XP_005260676.1:p.Ter230=
XR_936660.1:n.833G>A
NM_001322421.1:c.845G>A	NP_001309350.1:p.Ter282=
NM_001322422.1:c.677G>A	NP_001309351.1:p.Ter226=
NM_001362758.1:c.*159G>A	NP_001349687.1:n.*159G>A
NR_136327.1:n.829G>A
XM_005260619.3:c.689G>A	XP_005260676.1:p.Ter230=
XM_017028135.1:c.868G>A	XP_016883624.1:p.Glu290Lys
XM_017028136.1:c.766G>A	XP_016883625.1:p.Glu256Lys
NM_001250.6:c.833G>A MANE Select	NP_001241.1:p.Ter278=
NM_001302753.2:c.*159G>A	NP_001289682.1:n.*159G>A
NM_001322421.2:c.845G>A	NP_001309350.1:p.Ter282=
NM_001322422.2:c.677G>A	NP_001309351.1:p.Ter226=
NM_001362758.2:c.*159G>A	NP_001349687.1:n.*159G>A
NM_152854.4:c.*159G>A	NP_690593.1:n.*159G>A
NR_126502.2:n.866G>A
NR_136327.2:n.769G>A