Canonical Allele Identifier: CA510657740

Gene: CD40

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128884C>T , CM000682.2:g.46128884C>T	GRCh38
NC_000020.10:g.44757523C>T , CM000682.1:g.44757523C>T	GRCh37
NC_000020.9:g.44190930C>T	NCBI36
NG_007279.1:g.15618C>T , LRG_40:g.15618C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001250.6:c.678C>T MANE Select	NP_001241.1:p.Ala226=
ENST00000372285.8:c.678C>T MANE Select	ENSP00000361359.3:p.Ala226=
NM_001250.5:c.678C>T	NP_001241.1:p.Ala226=
NM_001302753.1:c.*4C>T	NP_001289682.1:n.*4C>T
NM_001302753.2:c.*4C>T	NP_001289682.1:n.*4C>T
NM_001322421.1:c.690C>T	NP_001309350.1:p.Ala230=
NM_001322421.2:c.690C>T	NP_001309350.1:p.Ala230=
NM_001322422.1:c.522C>T	NP_001309351.1:p.Ala174=
NM_001322422.2:c.522C>T	NP_001309351.1:p.Ala174=
NM_001362758.1:c.*4C>T	NP_001349687.1:n.*4C>T
NM_001362758.2:c.*4C>T	NP_001349687.1:n.*4C>T
NM_152854.3:c.*4C>T	NP_690593.1:n.*4C>T
NM_152854.4:c.*4C>T	NP_690593.1:n.*4C>T
NR_126502.1:n.771C>T
NR_126502.2:n.711C>T
NR_136327.1:n.674C>T
NR_136327.2:n.614C>T
ENST00000372276.7:c.*4C>T	ENSP00000361350.3:n.*4C>T
ENST00000372285.7:c.678C>T	ENSP00000361359.3:p.Ala226=
ENST00000466205.5:c.580C>T
ENST00000477696.5:n.651C>T
ENST00000477696.6:c.680C>T	ENSP00000512095.1:n.680C>T
ENST00000489304.5:n.754C>T
ENST00000489304.6:c.761C>T	ENSP00000512096.1:n.761C>T
ENST00000620709.4:c.*225C>T	ENSP00000484074.1:n.*225C>T
ENST00000695675.1:n.2554C>T
XM_005260617.2:c.690C>T	XP_005260674.1:p.Ala230=
XM_005260619.2:c.534C>T	XP_005260676.1:p.Ala178=
XM_005260619.3:c.534C>T	XP_005260676.1:p.Ala178=
XM_017028135.1:c.713C>T	XP_016883624.1:p.Pro238Leu
XM_017028136.1:c.611C>T	XP_016883625.1:p.Pro204Leu
XR_936660.1:n.678C>T