Canonical Allele Identifier: CA409212412

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757666A>T (hg19) ; chr20:g.46129027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129027A>T , CM000682.2:g.46129027A>T	GRCh38
NC_000020.10:g.44757666A>T , CM000682.1:g.44757666A>T	GRCh37
NC_000020.9:g.44191073A>T	NCBI36
NG_007279.1:g.15761A>T , LRG_40:g.15761A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.904A>T	ENSP00000512096.1:n.904A>T
ENST00000695675.1:n.2697A>T
ENST00000372285.8:c.821A>T MANE Select	ENSP00000361359.3:p.Gln274Leu
ENST00000372276.7:c.*147A>T	ENSP00000361350.3:n.*147A>T
ENST00000372285.7:c.821A>T	ENSP00000361359.3:p.Gln274Leu
ENST00000466205.5:c.723A>T
ENST00000489304.5:n.897A>T
ENST00000620709.4:c.*368A>T	ENSP00000484074.1:n.*368A>T
NM_001250.5:c.821A>T	NP_001241.1:p.Gln274Leu
NM_001302753.1:c.*147A>T	NP_001289682.1:n.*147A>T
NM_152854.3:c.*147A>T	NP_690593.1:n.*147A>T
NR_126502.1:n.914A>T
XM_005260617.2:c.833A>T	XP_005260674.1:p.Gln278Leu
XM_005260619.2:c.677A>T	XP_005260676.1:p.Gln226Leu
XR_936660.1:n.821A>T
NM_001322421.1:c.833A>T	NP_001309350.1:p.Gln278Leu
NM_001322422.1:c.665A>T	NP_001309351.1:p.Gln222Leu
NM_001362758.1:c.*147A>T	NP_001349687.1:n.*147A>T
NR_136327.1:n.817A>T
XM_005260619.3:c.677A>T	XP_005260676.1:p.Gln226Leu
XM_017028135.1:c.856A>T	XP_016883624.1:p.Arg286Trp
XM_017028136.1:c.754A>T	XP_016883625.1:p.Arg252Trp
NM_001250.6:c.821A>T MANE Select	NP_001241.1:p.Gln274Leu
NM_001302753.2:c.*147A>T	NP_001289682.1:n.*147A>T
NM_001322421.2:c.833A>T	NP_001309350.1:p.Gln278Leu
NM_001322422.2:c.665A>T	NP_001309351.1:p.Gln222Leu
NM_001362758.2:c.*147A>T	NP_001349687.1:n.*147A>T
NM_152854.4:c.*147A>T	NP_690593.1:n.*147A>T
NR_126502.2:n.854A>T
NR_136327.2:n.757A>T