Canonical Allele Identifier: CA409209595

Gene: CD40

Linked Data

• dbSNP Id: rs2085474989
• MyVariant Identifiers: chr20:g.44756859T>C (hg19) ; chr20:g.46128220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128220T>C , CM000682.2:g.46128220T>C	GRCh38
NC_000020.10:g.44756859T>C , CM000682.1:g.44756859T>C	GRCh37
NC_000020.9:g.44190266T>C	NCBI36
NG_007279.1:g.14954T>C , LRG_40:g.14954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.644T>C	ENSP00000512095.1:n.644T>C
ENST00000489304.6:c.725T>C	ENSP00000512096.1:n.725T>C
ENST00000695670.1:n.611T>C
ENST00000695671.1:c.682T>C	ENSP00000512093.1:p.Tyr228His
ENST00000695674.1:n.1121T>C
ENST00000695675.1:n.2518T>C
ENST00000372285.8:c.642T>C MANE Select	ENSP00000361359.3:p.Phe214=
ENST00000372276.7:c.580T>C	ENSP00000361350.3:p.Tyr194His
ENST00000372285.7:c.642T>C	ENSP00000361359.3:p.Phe214=
ENST00000466205.5:c.544T>C
ENST00000477696.5:n.615T>C
ENST00000489304.5:n.718T>C
ENST00000620709.4:c.*189T>C	ENSP00000484074.1:n.*189T>C
NM_001250.5:c.642T>C	NP_001241.1:p.Phe214=
NM_001302753.1:c.682T>C	NP_001289682.1:p.Tyr228His
NM_152854.3:c.580T>C	NP_690593.1:p.Tyr194His
NR_126502.1:n.735T>C
XM_005260617.2:c.642T>C	XP_005260674.1:p.Phe214=
XM_005260619.2:c.486T>C	XP_005260676.1:p.Phe162=
XR_936660.1:n.642T>C
NM_001322421.1:c.642T>C	NP_001309350.1:p.Phe214=
NM_001322422.1:c.486T>C	NP_001309351.1:p.Phe162=
NM_001362758.1:c.642T>C	NP_001349687.1:p.Phe214=
NR_136327.1:n.638T>C
XM_005260619.3:c.486T>C	XP_005260676.1:p.Phe162=
XM_017028135.1:c.682T>C	XP_016883624.1:p.Tyr228His
XM_017028136.1:c.580T>C	XP_016883625.1:p.Tyr194His
NM_001250.6:c.642T>C MANE Select	NP_001241.1:p.Phe214=
NM_001302753.2:c.682T>C	NP_001289682.1:p.Tyr228His
NM_001322421.2:c.642T>C	NP_001309350.1:p.Phe214=
NM_001322422.2:c.486T>C	NP_001309351.1:p.Phe162=
NM_001362758.2:c.642T>C	NP_001349687.1:p.Phe214=
NM_152854.4:c.580T>C	NP_690593.1:p.Tyr194His
NR_126502.2:n.675T>C
NR_136327.2:n.578T>C