Canonical Allele Identifier: CA409209547

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44756855T>C (hg19) ; chr20:g.46128216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128216T>C , CM000682.2:g.46128216T>C	GRCh38
NC_000020.10:g.44756855T>C , CM000682.1:g.44756855T>C	GRCh37
NC_000020.9:g.44190262T>C	NCBI36
NG_007279.1:g.14950T>C , LRG_40:g.14950T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.640T>C	ENSP00000512095.1:n.640T>C
ENST00000489304.6:c.721T>C	ENSP00000512096.1:n.721T>C
ENST00000695670.1:n.607T>C
ENST00000695671.1:c.678T>C	ENSP00000512093.1:p.Gly226=
ENST00000695674.1:n.1117T>C
ENST00000695675.1:n.2514T>C
ENST00000372285.8:c.638T>C MANE Select	ENSP00000361359.3:p.Val213Ala
ENST00000372276.7:c.576T>C	ENSP00000361350.3:p.Gly192=
ENST00000372285.7:c.638T>C	ENSP00000361359.3:p.Val213Ala
ENST00000466205.5:c.540T>C
ENST00000477696.5:n.611T>C
ENST00000489304.5:n.714T>C
ENST00000620709.4:c.*185T>C	ENSP00000484074.1:n.*185T>C
NM_001250.5:c.638T>C	NP_001241.1:p.Val213Ala
NM_001302753.1:c.678T>C	NP_001289682.1:p.Gly226=
NM_152854.3:c.576T>C	NP_690593.1:p.Gly192=
NR_126502.1:n.731T>C
XM_005260617.2:c.638T>C	XP_005260674.1:p.Val213Ala
XM_005260619.2:c.482T>C	XP_005260676.1:p.Val161Ala
XR_936660.1:n.638T>C
NM_001322421.1:c.638T>C	NP_001309350.1:p.Val213Ala
NM_001322422.1:c.482T>C	NP_001309351.1:p.Val161Ala
NM_001362758.1:c.638T>C	NP_001349687.1:p.Val213Ala
NR_136327.1:n.634T>C
XM_005260619.3:c.482T>C	XP_005260676.1:p.Val161Ala
XM_017028135.1:c.678T>C	XP_016883624.1:p.Gly226=
XM_017028136.1:c.576T>C	XP_016883625.1:p.Gly192=
NM_001250.6:c.638T>C MANE Select	NP_001241.1:p.Val213Ala
NM_001302753.2:c.678T>C	NP_001289682.1:p.Gly226=
NM_001322421.2:c.638T>C	NP_001309350.1:p.Val213Ala
NM_001322422.2:c.482T>C	NP_001309351.1:p.Val161Ala
NM_001362758.2:c.638T>C	NP_001349687.1:p.Val213Ala
NM_152854.4:c.576T>C	NP_690593.1:p.Gly192=
NR_126502.2:n.671T>C
NR_136327.2:n.574T>C