Canonical Allele Identifier: CA409212321

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757654G>C (hg19) ; chr20:g.46129015G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129015G>C , CM000682.2:g.46129015G>C	GRCh38
NC_000020.10:g.44757654G>C , CM000682.1:g.44757654G>C	GRCh37
NC_000020.9:g.44191061G>C	NCBI36
NG_007279.1:g.15749G>C , LRG_40:g.15749G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.892G>C	ENSP00000512096.1:n.892G>C
ENST00000695675.1:n.2685G>C
ENST00000372285.8:c.809G>C MANE Select	ENSP00000361359.3:p.Arg270Pro
ENST00000372276.7:c.*135G>C	ENSP00000361350.3:n.*135G>C
ENST00000372285.7:c.809G>C	ENSP00000361359.3:p.Arg270Pro
ENST00000466205.5:c.711G>C
ENST00000489304.5:n.885G>C
ENST00000620709.4:c.*356G>C	ENSP00000484074.1:n.*356G>C
NM_001250.5:c.809G>C	NP_001241.1:p.Arg270Pro
NM_001302753.1:c.*135G>C	NP_001289682.1:n.*135G>C
NM_152854.3:c.*135G>C	NP_690593.1:n.*135G>C
NR_126502.1:n.902G>C
XM_005260617.2:c.821G>C	XP_005260674.1:p.Arg274Pro
XM_005260619.2:c.665G>C	XP_005260676.1:p.Arg222Pro
XR_936660.1:n.809G>C
NM_001322421.1:c.821G>C	NP_001309350.1:p.Arg274Pro
NM_001322422.1:c.653G>C	NP_001309351.1:p.Arg218Pro
NM_001362758.1:c.*135G>C	NP_001349687.1:n.*135G>C
NR_136327.1:n.805G>C
XM_005260619.3:c.665G>C	XP_005260676.1:p.Arg222Pro
XM_017028135.1:c.844G>C	XP_016883624.1:p.Ala282Pro
XM_017028136.1:c.742G>C	XP_016883625.1:p.Ala248Pro
NM_001250.6:c.809G>C MANE Select	NP_001241.1:p.Arg270Pro
NM_001302753.2:c.*135G>C	NP_001289682.1:n.*135G>C
NM_001322421.2:c.821G>C	NP_001309350.1:p.Arg274Pro
NM_001322422.2:c.653G>C	NP_001309351.1:p.Arg218Pro
NM_001362758.2:c.*135G>C	NP_001349687.1:n.*135G>C
NM_152854.4:c.*135G>C	NP_690593.1:n.*135G>C
NR_126502.2:n.842G>C
NR_136327.2:n.745G>C