Canonical Allele Identifier: CA409209609

Gene: CD40

Linked Data

• dbSNP Id: rs2145612722
• MyVariant Identifiers: chr20:g.44756860A>T (hg19) ; chr20:g.46128221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128221A>T , CM000682.2:g.46128221A>T	GRCh38
NC_000020.10:g.44756860A>T , CM000682.1:g.44756860A>T	GRCh37
NC_000020.9:g.44190267A>T	NCBI36
NG_007279.1:g.14955A>T , LRG_40:g.14955A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.645A>T	ENSP00000512095.1:n.645A>T
ENST00000489304.6:c.726A>T	ENSP00000512096.1:n.726A>T
ENST00000695670.1:n.612A>T
ENST00000695671.1:c.683A>T	ENSP00000512093.1:p.Tyr228Phe
ENST00000695674.1:n.1122A>T
ENST00000695675.1:n.2519A>T
ENST00000372285.8:c.643A>T MANE Select	ENSP00000361359.3:p.Ile215Phe
ENST00000372276.7:c.581A>T	ENSP00000361350.3:p.Tyr194Phe
ENST00000372285.7:c.643A>T	ENSP00000361359.3:p.Ile215Phe
ENST00000466205.5:c.545A>T
ENST00000477696.5:n.616A>T
ENST00000489304.5:n.719A>T
ENST00000620709.4:c.*190A>T	ENSP00000484074.1:n.*190A>T
NM_001250.5:c.643A>T	NP_001241.1:p.Ile215Phe
NM_001302753.1:c.683A>T	NP_001289682.1:p.Tyr228Phe
NM_152854.3:c.581A>T	NP_690593.1:p.Tyr194Phe
NR_126502.1:n.736A>T
XM_005260617.2:c.643A>T	XP_005260674.1:p.Ile215Phe
XM_005260619.2:c.487A>T	XP_005260676.1:p.Ile163Phe
XR_936660.1:n.643A>T
NM_001322421.1:c.643A>T	NP_001309350.1:p.Ile215Phe
NM_001322422.1:c.487A>T	NP_001309351.1:p.Ile163Phe
NM_001362758.1:c.643A>T	NP_001349687.1:p.Ile215Phe
NR_136327.1:n.639A>T
XM_005260619.3:c.487A>T	XP_005260676.1:p.Ile163Phe
XM_017028135.1:c.683A>T	XP_016883624.1:p.Tyr228Phe
XM_017028136.1:c.581A>T	XP_016883625.1:p.Tyr194Phe
NM_001250.6:c.643A>T MANE Select	NP_001241.1:p.Ile215Phe
NM_001302753.2:c.683A>T	NP_001289682.1:p.Tyr228Phe
NM_001322421.2:c.643A>T	NP_001309350.1:p.Ile215Phe
NM_001322422.2:c.487A>T	NP_001309351.1:p.Ile163Phe
NM_001362758.2:c.643A>T	NP_001349687.1:p.Ile215Phe
NM_152854.4:c.581A>T	NP_690593.1:p.Tyr194Phe
NR_126502.2:n.676A>T
NR_136327.2:n.579A>T