Canonical Allele Identifier: CA409211951

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757596G>C (hg19) ; chr20:g.46128957G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128957G>C , CM000682.2:g.46128957G>C	GRCh38
NC_000020.10:g.44757596G>C , CM000682.1:g.44757596G>C	GRCh37
NC_000020.9:g.44191003G>C	NCBI36
NG_007279.1:g.15691G>C , LRG_40:g.15691G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.753G>C	ENSP00000512095.1:n.753G>C
ENST00000489304.6:c.834G>C	ENSP00000512096.1:n.834G>C
ENST00000695675.1:n.2627G>C
ENST00000372285.8:c.751G>C MANE Select	ENSP00000361359.3:p.Val251Leu
ENST00000372276.7:c.*77G>C	ENSP00000361350.3:n.*77G>C
ENST00000372285.7:c.751G>C	ENSP00000361359.3:p.Val251Leu
ENST00000466205.5:c.653G>C
ENST00000477696.5:n.724G>C
ENST00000489304.5:n.827G>C
ENST00000620709.4:c.*298G>C	ENSP00000484074.1:n.*298G>C
NM_001250.5:c.751G>C	NP_001241.1:p.Val251Leu
NM_001302753.1:c.*77G>C	NP_001289682.1:n.*77G>C
NM_152854.3:c.*77G>C	NP_690593.1:n.*77G>C
NR_126502.1:n.844G>C
XM_005260617.2:c.763G>C	XP_005260674.1:p.Val255Leu
XM_005260619.2:c.607G>C	XP_005260676.1:p.Val203Leu
XR_936660.1:n.751G>C
NM_001322421.1:c.763G>C	NP_001309350.1:p.Val255Leu
NM_001322422.1:c.595G>C	NP_001309351.1:p.Val199Leu
NM_001362758.1:c.*77G>C	NP_001349687.1:n.*77G>C
NR_136327.1:n.747G>C
XM_005260619.3:c.607G>C	XP_005260676.1:p.Val203Leu
XM_017028135.1:c.786G>C	XP_016883624.1:p.Gln262His
XM_017028136.1:c.684G>C	XP_016883625.1:p.Gln228His
NM_001250.6:c.751G>C MANE Select	NP_001241.1:p.Val251Leu
NM_001302753.2:c.*77G>C	NP_001289682.1:n.*77G>C
NM_001322421.2:c.763G>C	NP_001309350.1:p.Val255Leu
NM_001322422.2:c.595G>C	NP_001309351.1:p.Val199Leu
NM_001362758.2:c.*77G>C	NP_001349687.1:n.*77G>C
NM_152854.4:c.*77G>C	NP_690593.1:n.*77G>C
NR_126502.2:n.784G>C
NR_136327.2:n.687G>C