Canonical Allele Identifier: CA409209061

Gene: CD40

Linked Data

• gnomAD v4: 20-46128158-G-C
• MyVariant Identifiers: chr20:g.44756797G>C (hg19) ; chr20:g.46128158G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128158G>C , CM000682.2:g.46128158G>C	GRCh38
NC_000020.10:g.44756797G>C , CM000682.1:g.44756797G>C	GRCh37
NC_000020.9:g.44190204G>C	NCBI36
NG_007279.1:g.14892G>C , LRG_40:g.14892G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000477696.6:c.582G>C	ENSP00000512095.1:n.582G>C
ENST00000489304.6:c.663G>C	ENSP00000512096.1:n.663G>C
ENST00000695670.1:n.549G>C
ENST00000695671.1:c.620G>C	ENSP00000512093.1:p.Ser207Thr
ENST00000695674.1:n.1059G>C
ENST00000695675.1:n.2456G>C
ENST00000372285.8:c.580G>C MANE Select	ENSP00000361359.3:p.Ala194Pro
ENST00000372276.7:c.518G>C	ENSP00000361350.3:p.Ser173Thr
ENST00000372285.7:c.580G>C	ENSP00000361359.3:p.Ala194Pro
ENST00000466205.5:c.482G>C
ENST00000477696.5:n.553G>C
ENST00000489304.5:n.656G>C
ENST00000620709.4:c.*127G>C	ENSP00000484074.1:n.*127G>C
NM_001250.5:c.580G>C	NP_001241.1:p.Ala194Pro
NM_001302753.1:c.620G>C	NP_001289682.1:p.Ser207Thr
NM_152854.3:c.518G>C	NP_690593.1:p.Ser173Thr
NR_126502.1:n.673G>C
XM_005260617.2:c.580G>C	XP_005260674.1:p.Ala194Pro
XM_005260619.2:c.424G>C	XP_005260676.1:p.Ala142Pro
XR_936660.1:n.580G>C
NM_001322421.1:c.580G>C	NP_001309350.1:p.Ala194Pro
NM_001322422.1:c.424G>C	NP_001309351.1:p.Ala142Pro
NM_001362758.1:c.580G>C	NP_001349687.1:p.Ala194Pro
NR_136327.1:n.576G>C
XM_005260619.3:c.424G>C	XP_005260676.1:p.Ala142Pro
XM_017028135.1:c.620G>C	XP_016883624.1:p.Ser207Thr
XM_017028136.1:c.518G>C	XP_016883625.1:p.Ser173Thr
NM_001250.6:c.580G>C MANE Select	NP_001241.1:p.Ala194Pro
NM_001302753.2:c.620G>C	NP_001289682.1:p.Ser207Thr
NM_001322421.2:c.580G>C	NP_001309350.1:p.Ala194Pro
NM_001322422.2:c.424G>C	NP_001309351.1:p.Ala142Pro
NM_001362758.2:c.580G>C	NP_001349687.1:p.Ala194Pro
NM_152854.4:c.518G>C	NP_690593.1:p.Ser173Thr
NR_126502.2:n.613G>C
NR_136327.2:n.516G>C