Canonical Allele Identifier: CA409212417

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757667G>T (hg19) ; chr20:g.46129028G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.905G>T	ENSP00000512096.1:n.905G>T
ENST00000695675.1:n.2698G>T
ENST00000372285.8:c.822G>T MANE Select	ENSP00000361359.3:p.Gln274His
ENST00000372276.7:c.*148G>T	ENSP00000361350.3:n.*148G>T
ENST00000372285.7:c.822G>T	ENSP00000361359.3:p.Gln274His
ENST00000466205.5:c.724G>T
ENST00000489304.5:n.898G>T
ENST00000620709.4:c.*369G>T	ENSP00000484074.1:n.*369G>T
NM_001250.5:c.822G>T	NP_001241.1:p.Gln274His
NM_001302753.1:c.*148G>T	NP_001289682.1:n.*148G>T
NM_152854.3:c.*148G>T	NP_690593.1:n.*148G>T
NR_126502.1:n.915G>T
XM_005260617.2:c.834G>T	XP_005260674.1:p.Gln278His
XM_005260619.2:c.678G>T	XP_005260676.1:p.Gln226His
XR_936660.1:n.822G>T
NM_001322421.1:c.834G>T	NP_001309350.1:p.Gln278His
NM_001322422.1:c.666G>T	NP_001309351.1:p.Gln222His
NM_001362758.1:c.*148G>T	NP_001349687.1:n.*148G>T
NR_136327.1:n.818G>T
XM_005260619.3:c.678G>T	XP_005260676.1:p.Gln226His
XM_017028135.1:c.857G>T	XP_016883624.1:p.Arg286Met
XM_017028136.1:c.755G>T	XP_016883625.1:p.Arg252Met
NM_001250.6:c.822G>T MANE Select	NP_001241.1:p.Gln274His
NM_001302753.2:c.*148G>T	NP_001289682.1:n.*148G>T
NM_001322421.2:c.834G>T	NP_001309350.1:p.Gln278His
NM_001322422.2:c.666G>T	NP_001309351.1:p.Gln222His
NM_001362758.2:c.*148G>T	NP_001349687.1:n.*148G>T
NM_152854.4:c.*148G>T	NP_690593.1:n.*148G>T
NR_126502.2:n.855G>T
NR_136327.2:n.758G>T