Canonical Allele Identifier: CA636177228

Gene: CD40

Linked Data

• dbSNP Id: rs1186333103
• gnomAD v2: 20-44757765-G-T
• gnomAD v4: 20-46129126-G-T
• MyVariant Identifiers: chr20:g.44757765G>T (hg19) ; chr20:g.46129126G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129126G>T , CM000682.2:g.46129126G>T	GRCh38
NC_000020.10:g.44757765G>T , CM000682.1:g.44757765G>T	GRCh37
NC_000020.9:g.44191172G>T	NCBI36
NG_007279.1:g.15860G>T , LRG_40:g.15860G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1003G>T	ENSP00000512096.1:n.1003G>T
ENST00000695675.1:n.2796G>T
ENST00000372285.8:c.*86G>T MANE Select	ENSP00000361359.3:n.*86G>T
ENST00000372276.7:c.*246G>T	ENSP00000361350.3:n.*246G>T
ENST00000372285.7:c.*86G>T	ENSP00000361359.3:n.*86G>T
ENST00000466205.5:c.822G>T
ENST00000489304.5:n.996G>T
ENST00000620709.4:c.*467G>T	ENSP00000484074.1:n.*467G>T
NM_001250.5:c.*86G>T	NP_001241.1:n.*86G>T
NM_001302753.1:c.*246G>T	NP_001289682.1:n.*246G>T
NM_152854.3:c.*246G>T	NP_690593.1:n.*246G>T
NR_126502.1:n.1013G>T
XM_005260617.2:c.*86G>T	XP_005260674.1:n.*86G>T
XM_005260619.2:c.*86G>T	XP_005260676.1:n.*86G>T
NM_001322421.1:c.*86G>T	NP_001309350.1:n.*86G>T
NM_001322422.1:c.*86G>T	NP_001309351.1:n.*86G>T
NM_001362758.1:c.*246G>T	NP_001349687.1:n.*246G>T
NR_136327.1:n.916G>T
XM_005260619.3:c.*86G>T	XP_005260676.1:n.*86G>T
XM_017028135.1:c.955G>T	XP_016883624.1:p.Val319Leu
XM_017028136.1:c.853G>T	XP_016883625.1:p.Val285Leu
NM_001250.6:c.*86G>T MANE Select	NP_001241.1:n.*86G>T
NM_001302753.2:c.*246G>T	NP_001289682.1:n.*246G>T
NM_001322421.2:c.*86G>T	NP_001309350.1:n.*86G>T
NM_001322422.2:c.*86G>T	NP_001309351.1:n.*86G>T
NM_001362758.2:c.*246G>T	NP_001349687.1:n.*246G>T
NM_152854.4:c.*246G>T	NP_690593.1:n.*246G>T
NR_126502.2:n.953G>T
NR_136327.2:n.856G>T