Canonical Allele Identifier: CA409212295

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757651G>C (hg19) ; chr20:g.46129012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129012G>C , CM000682.2:g.46129012G>C	GRCh38
NC_000020.10:g.44757651G>C , CM000682.1:g.44757651G>C	GRCh37
NC_000020.9:g.44191058G>C	NCBI36
NG_007279.1:g.15746G>C , LRG_40:g.15746G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.889G>C	ENSP00000512096.1:n.889G>C
ENST00000695675.1:n.2682G>C
ENST00000372285.8:c.806G>C MANE Select	ENSP00000361359.3:p.Ser269Thr
ENST00000372276.7:c.*132G>C	ENSP00000361350.3:n.*132G>C
ENST00000372285.7:c.806G>C	ENSP00000361359.3:p.Ser269Thr
ENST00000466205.5:c.708G>C
ENST00000489304.5:n.882G>C
ENST00000620709.4:c.*353G>C	ENSP00000484074.1:n.*353G>C
NM_001250.5:c.806G>C	NP_001241.1:p.Ser269Thr
NM_001302753.1:c.*132G>C	NP_001289682.1:n.*132G>C
NM_152854.3:c.*132G>C	NP_690593.1:n.*132G>C
NR_126502.1:n.899G>C
XM_005260617.2:c.818G>C	XP_005260674.1:p.Ser273Thr
XM_005260619.2:c.662G>C	XP_005260676.1:p.Ser221Thr
XR_936660.1:n.806G>C
NM_001322421.1:c.818G>C	NP_001309350.1:p.Ser273Thr
NM_001322422.1:c.650G>C	NP_001309351.1:p.Ser217Thr
NM_001362758.1:c.*132G>C	NP_001349687.1:n.*132G>C
NR_136327.1:n.802G>C
XM_005260619.3:c.662G>C	XP_005260676.1:p.Ser221Thr
XM_017028135.1:c.841G>C	XP_016883624.1:p.Val281Leu
XM_017028136.1:c.739G>C	XP_016883625.1:p.Val247Leu
NM_001250.6:c.806G>C MANE Select	NP_001241.1:p.Ser269Thr
NM_001302753.2:c.*132G>C	NP_001289682.1:n.*132G>C
NM_001322421.2:c.818G>C	NP_001309350.1:p.Ser273Thr
NM_001322422.2:c.650G>C	NP_001309351.1:p.Ser217Thr
NM_001362758.2:c.*132G>C	NP_001349687.1:n.*132G>C
NM_152854.4:c.*132G>C	NP_690593.1:n.*132G>C
NR_126502.2:n.839G>C
NR_136327.2:n.742G>C