Canonical Allele Identifier: CA510655254

Gene: CD40

Linked Data

• ClinVar Variation Id: 2771033
• ClinVar RCV Id: RCV003580957
• MyVariant Identifiers: chr20:g.44751328G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46122689G>T , CM000682.2:g.46122689G>T	GRCh38
NC_000020.10:g.44751328G>T , CM000682.1:g.44751328G>T	GRCh37
NC_000020.9:g.44184735G>T	NCBI36
NG_007279.1:g.9423G>T , LRG_40:g.9423G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.432G>T	ENSP00000512095.1:n.432G>T
ENST00000489304.6:c.336G>T	ENSP00000512096.1:p.Thr112=
ENST00000695669.1:n.409G>T
ENST00000695670.1:n.316G>T
ENST00000695671.1:c.336G>T	ENSP00000512093.1:p.Thr112=
ENST00000695672.1:n.261G>T
ENST00000695673.1:n.201G>T
ENST00000372285.8:c.336G>T MANE Select	ENSP00000361359.3:p.Thr112=
ENST00000372276.7:c.336G>T	ENSP00000361350.3:p.Thr112=
ENST00000372285.7:c.336G>T	ENSP00000361359.3:p.Thr112=
ENST00000461171.1:n.121G>T
ENST00000466205.5:c.332G>T
ENST00000477696.5:n.403G>T
ENST00000489304.5:n.329G>T
ENST00000620709.4:c.336G>T	ENSP00000484074.1:p.Thr112=
NM_001250.5:c.336G>T	NP_001241.1:p.Thr112=
NM_001302753.1:c.336G>T	NP_001289682.1:p.Thr112=
NM_152854.3:c.336G>T	NP_690593.1:p.Thr112=
NR_126502.1:n.426G>T
XM_005260617.2:c.336G>T	XP_005260674.1:p.Thr112=
XM_005260619.2:c.336G>T	XP_005260676.1:p.Thr112=
XM_011529109.1:c.336G>T	XP_011527411.1:p.Thr112=
XR_936660.1:n.430G>T
NM_001322421.1:c.336G>T	NP_001309350.1:p.Thr112=
NM_001322422.1:c.336G>T	NP_001309351.1:p.Thr112=
NM_001362758.1:c.336G>T	NP_001349687.1:p.Thr112=
NR_136327.1:n.426G>T
XM_005260619.3:c.336G>T	XP_005260676.1:p.Thr112=
XM_011529109.2:c.336G>T	XP_011527411.1:p.Thr112=
XM_017028135.1:c.336G>T	XP_016883624.1:p.Thr112=
XM_017028136.1:c.336G>T	XP_016883625.1:p.Thr112=
NM_001250.6:c.336G>T MANE Select	NP_001241.1:p.Thr112=
NM_001302753.2:c.336G>T	NP_001289682.1:p.Thr112=
NM_001322421.2:c.336G>T	NP_001309350.1:p.Thr112=
NM_001322422.2:c.336G>T	NP_001309351.1:p.Thr112=
NM_001362758.2:c.336G>T	NP_001349687.1:p.Thr112=
NM_152854.4:c.336G>T	NP_690593.1:p.Thr112=
NR_126502.2:n.366G>T
NR_136327.2:n.366G>T