Canonical Allele Identifier: CA409204970

Gene: CD40

Linked Data

• ClinVar Variation Id: 897759
• ClinVar RCV Id: RCV001141230
• dbSNP Id: rs1171596083
• gnomAD v4: 20-46122664-C-T
• MyVariant Identifiers: chr20:g.44751303C>T (hg19) ; chr20:g.46122664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122664C>T , CM000682.2:g.46122664C>T	GRCh38
NC_000020.10:g.44751303C>T , CM000682.1:g.44751303C>T	GRCh37
NC_000020.9:g.44184710C>T	NCBI36
NG_007279.1:g.9398C>T , LRG_40:g.9398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.407C>T	ENSP00000512095.1:n.407C>T
ENST00000489304.6:c.311C>T	ENSP00000512096.1:p.Thr104Ile
ENST00000695669.1:n.384C>T
ENST00000695670.1:n.291C>T
ENST00000695671.1:c.311C>T	ENSP00000512093.1:p.Thr104Ile
ENST00000695672.1:n.236C>T
ENST00000695673.1:n.176C>T
ENST00000372285.8:c.311C>T MANE Select	ENSP00000361359.3:p.Thr104Ile
ENST00000372276.7:c.311C>T	ENSP00000361350.3:p.Thr104Ile
ENST00000372285.7:c.311C>T	ENSP00000361359.3:p.Thr104Ile
ENST00000461171.1:n.96C>T
ENST00000466205.5:c.307C>T
ENST00000477696.5:n.378C>T
ENST00000489304.5:n.304C>T
ENST00000620709.4:c.311C>T	ENSP00000484074.1:p.Thr104Ile
NM_001250.5:c.311C>T	NP_001241.1:p.Thr104Ile
NM_001302753.1:c.311C>T	NP_001289682.1:p.Thr104Ile
NM_152854.3:c.311C>T	NP_690593.1:p.Thr104Ile
NR_126502.1:n.401C>T
XM_005260617.2:c.311C>T	XP_005260674.1:p.Thr104Ile
XM_005260619.2:c.311C>T	XP_005260676.1:p.Thr104Ile
XM_011529109.1:c.311C>T	XP_011527411.1:p.Thr104Ile
XR_936660.1:n.405C>T
NM_001322421.1:c.311C>T	NP_001309350.1:p.Thr104Ile
NM_001322422.1:c.311C>T	NP_001309351.1:p.Thr104Ile
NM_001362758.1:c.311C>T	NP_001349687.1:p.Thr104Ile
NR_136327.1:n.401C>T
XM_005260619.3:c.311C>T	XP_005260676.1:p.Thr104Ile
XM_011529109.2:c.311C>T	XP_011527411.1:p.Thr104Ile
XM_017028135.1:c.311C>T	XP_016883624.1:p.Thr104Ile
XM_017028136.1:c.311C>T	XP_016883625.1:p.Thr104Ile
NM_001250.6:c.311C>T MANE Select	NP_001241.1:p.Thr104Ile
NM_001302753.2:c.311C>T	NP_001289682.1:p.Thr104Ile
NM_001322421.2:c.311C>T	NP_001309350.1:p.Thr104Ile
NM_001322422.2:c.311C>T	NP_001309351.1:p.Thr104Ile
NM_001362758.2:c.311C>T	NP_001349687.1:p.Thr104Ile
NM_152854.4:c.311C>T	NP_690593.1:p.Thr104Ile
NR_126502.2:n.341C>T
NR_136327.2:n.341C>T