Canonical Allele Identifier: CA2739725411

Gene: CD40

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129127T>C , CM000682.2:g.46129127T>C	GRCh38
NC_000020.10:g.44757766T>C , CM000682.1:g.44757766T>C	GRCh37
NC_000020.9:g.44191173T>C	NCBI36
NG_007279.1:g.15861T>C , LRG_40:g.15861T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1004T>C	ENSP00000512096.1:n.1004T>C
ENST00000695675.1:n.2797T>C
ENST00000372285.8:c.*87T>C MANE Select	ENSP00000361359.3:n.*87T>C
ENST00000372276.7:c.*247T>C	ENSP00000361350.3:n.*247T>C
ENST00000372285.7:c.*87T>C	ENSP00000361359.3:n.*87T>C
ENST00000489304.5:n.997T>C
ENST00000620709.4:c.*468T>C	ENSP00000484074.1:n.*468T>C
NM_001250.5:c.*87T>C	NP_001241.1:n.*87T>C
NM_001302753.1:c.*247T>C	NP_001289682.1:n.*247T>C
NM_152854.3:c.*247T>C	NP_690593.1:n.*247T>C
NR_126502.1:n.1014T>C
XM_005260617.2:c.*87T>C	XP_005260674.1:n.*87T>C
XM_005260619.2:c.*87T>C	XP_005260676.1:n.*87T>C
NM_001322421.1:c.*87T>C	NP_001309350.1:n.*87T>C
NM_001322422.1:c.*87T>C	NP_001309351.1:n.*87T>C
NM_001362758.1:c.*247T>C	NP_001349687.1:n.*247T>C
NR_136327.1:n.917T>C
XM_005260619.3:c.*87T>C	XP_005260676.1:n.*87T>C
XM_017028135.1:c.956T>C	XP_016883624.1:p.Val319Ala
XM_017028136.1:c.854T>C	XP_016883625.1:p.Val285Ala
NM_001250.6:c.*87T>C MANE Select	NP_001241.1:n.*87T>C
NM_001302753.2:c.*247T>C	NP_001289682.1:n.*247T>C
NM_001322421.2:c.*87T>C	NP_001309350.1:n.*87T>C
NM_001322422.2:c.*87T>C	NP_001309351.1:n.*87T>C
NM_001362758.2:c.*247T>C	NP_001349687.1:n.*247T>C
NM_152854.4:c.*247T>C	NP_690593.1:n.*247T>C
NR_126502.2:n.954T>C
NR_136327.2:n.857T>C