Canonical Allele Identifier: CA409212248

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757645A>C (hg19) ; chr20:g.46129006A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129006A>C , CM000682.2:g.46129006A>C	GRCh38
NC_000020.10:g.44757645A>C , CM000682.1:g.44757645A>C	GRCh37
NC_000020.9:g.44191052A>C	NCBI36
NG_007279.1:g.15740A>C , LRG_40:g.15740A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.883A>C	ENSP00000512096.1:n.883A>C
ENST00000695675.1:n.2676A>C
ENST00000372285.8:c.800A>C MANE Select	ENSP00000361359.3:p.Lys267Thr
ENST00000372276.7:c.*126A>C	ENSP00000361350.3:n.*126A>C
ENST00000372285.7:c.800A>C	ENSP00000361359.3:p.Lys267Thr
ENST00000466205.5:c.702A>C
ENST00000489304.5:n.876A>C
ENST00000620709.4:c.*347A>C	ENSP00000484074.1:n.*347A>C
NM_001250.5:c.800A>C	NP_001241.1:p.Lys267Thr
NM_001302753.1:c.*126A>C	NP_001289682.1:n.*126A>C
NM_152854.3:c.*126A>C	NP_690593.1:n.*126A>C
NR_126502.1:n.893A>C
XM_005260617.2:c.812A>C	XP_005260674.1:p.Lys271Thr
XM_005260619.2:c.656A>C	XP_005260676.1:p.Lys219Thr
XR_936660.1:n.800A>C
NM_001322421.1:c.812A>C	NP_001309350.1:p.Lys271Thr
NM_001322422.1:c.644A>C	NP_001309351.1:p.Lys215Thr
NM_001362758.1:c.*126A>C	NP_001349687.1:n.*126A>C
NR_136327.1:n.796A>C
XM_005260619.3:c.656A>C	XP_005260676.1:p.Lys219Thr
XM_017028135.1:c.835A>C	XP_016883624.1:p.Lys279Gln
XM_017028136.1:c.733A>C	XP_016883625.1:p.Lys245Gln
NM_001250.6:c.800A>C MANE Select	NP_001241.1:p.Lys267Thr
NM_001302753.2:c.*126A>C	NP_001289682.1:n.*126A>C
NM_001322421.2:c.812A>C	NP_001309350.1:p.Lys271Thr
NM_001322422.2:c.644A>C	NP_001309351.1:p.Lys215Thr
NM_001362758.2:c.*126A>C	NP_001349687.1:n.*126A>C
NM_152854.4:c.*126A>C	NP_690593.1:n.*126A>C
NR_126502.2:n.833A>C
NR_136327.2:n.736A>C