Canonical Allele Identifier: CA315654840

Gene: CD40

Linked Data

• dbSNP Id: rs985984295
• gnomAD v4: 20-46128945-A-C
• MyVariant Identifiers: chr20:g.44757584A>C (hg19) ; chr20:g.46128945A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128945A>C , CM000682.2:g.46128945A>C	GRCh38
NC_000020.10:g.44757584A>C , CM000682.1:g.44757584A>C	GRCh37
NC_000020.9:g.44190991A>C	NCBI36
NG_007279.1:g.15679A>C , LRG_40:g.15679A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.741A>C	ENSP00000512095.1:n.741A>C
ENST00000489304.6:c.822A>C	ENSP00000512096.1:n.822A>C
ENST00000695675.1:n.2615A>C
ENST00000372285.8:c.739A>C MANE Select	ENSP00000361359.3:p.Thr247Pro
ENST00000372276.7:c.*65A>C	ENSP00000361350.3:n.*65A>C
ENST00000372285.7:c.739A>C	ENSP00000361359.3:p.Thr247Pro
ENST00000466205.5:c.641A>C
ENST00000477696.5:n.712A>C
ENST00000489304.5:n.815A>C
ENST00000620709.4:c.*286A>C	ENSP00000484074.1:n.*286A>C
NM_001250.5:c.739A>C	NP_001241.1:p.Thr247Pro
NM_001302753.1:c.*65A>C	NP_001289682.1:n.*65A>C
NM_152854.3:c.*65A>C	NP_690593.1:n.*65A>C
NR_126502.1:n.832A>C
XM_005260617.2:c.751A>C	XP_005260674.1:p.Thr251Pro
XM_005260619.2:c.595A>C	XP_005260676.1:p.Thr199Pro
XR_936660.1:n.739A>C
NM_001322421.1:c.751A>C	NP_001309350.1:p.Thr251Pro
NM_001322422.1:c.583A>C	NP_001309351.1:p.Thr195Pro
NM_001362758.1:c.*65A>C	NP_001349687.1:n.*65A>C
NR_136327.1:n.735A>C
XM_005260619.3:c.595A>C	XP_005260676.1:p.Thr199Pro
XM_017028135.1:c.774A>C	XP_016883624.1:p.Thr258=
XM_017028136.1:c.672A>C	XP_016883625.1:p.Thr224=
NM_001250.6:c.739A>C MANE Select	NP_001241.1:p.Thr247Pro
NM_001302753.2:c.*65A>C	NP_001289682.1:n.*65A>C
NM_001322421.2:c.751A>C	NP_001309350.1:p.Thr251Pro
NM_001322422.2:c.583A>C	NP_001309351.1:p.Thr195Pro
NM_001362758.2:c.*65A>C	NP_001349687.1:n.*65A>C
NM_152854.4:c.*65A>C	NP_690593.1:n.*65A>C
NR_126502.2:n.772A>C
NR_136327.2:n.675A>C