Canonical Allele Identifier: CA409212362

Gene: CD40

Linked Data

• MyVariant Identifiers: chr20:g.44757660C>T (hg19) ; chr20:g.46129021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129021C>T , CM000682.2:g.46129021C>T	GRCh38
NC_000020.10:g.44757660C>T , CM000682.1:g.44757660C>T	GRCh37
NC_000020.9:g.44191067C>T	NCBI36
NG_007279.1:g.15755C>T , LRG_40:g.15755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.898C>T	ENSP00000512096.1:n.898C>T
ENST00000695675.1:n.2691C>T
ENST00000372285.8:c.815C>T MANE Select	ENSP00000361359.3:p.Ser272Leu
ENST00000372276.7:c.*141C>T	ENSP00000361350.3:n.*141C>T
ENST00000372285.7:c.815C>T	ENSP00000361359.3:p.Ser272Leu
ENST00000466205.5:c.717C>T
ENST00000489304.5:n.891C>T
ENST00000620709.4:c.*362C>T	ENSP00000484074.1:n.*362C>T
NM_001250.5:c.815C>T	NP_001241.1:p.Ser272Leu
NM_001302753.1:c.*141C>T	NP_001289682.1:n.*141C>T
NM_152854.3:c.*141C>T	NP_690593.1:n.*141C>T
NR_126502.1:n.908C>T
XM_005260617.2:c.827C>T	XP_005260674.1:p.Ser276Leu
XM_005260619.2:c.671C>T	XP_005260676.1:p.Ser224Leu
XR_936660.1:n.815C>T
NM_001322421.1:c.827C>T	NP_001309350.1:p.Ser276Leu
NM_001322422.1:c.659C>T	NP_001309351.1:p.Ser220Leu
NM_001362758.1:c.*141C>T	NP_001349687.1:n.*141C>T
NR_136327.1:n.811C>T
XM_005260619.3:c.671C>T	XP_005260676.1:p.Ser224Leu
XM_017028135.1:c.850C>T	XP_016883624.1:p.Gln284Ter
XM_017028136.1:c.748C>T	XP_016883625.1:p.Gln250Ter
NM_001250.6:c.815C>T MANE Select	NP_001241.1:p.Ser272Leu
NM_001302753.2:c.*141C>T	NP_001289682.1:n.*141C>T
NM_001322421.2:c.827C>T	NP_001309350.1:p.Ser276Leu
NM_001322422.2:c.659C>T	NP_001309351.1:p.Ser220Leu
NM_001362758.2:c.*141C>T	NP_001349687.1:n.*141C>T
NM_152854.4:c.*141C>T	NP_690593.1:n.*141C>T
NR_126502.2:n.848C>T
NR_136327.2:n.751C>T