Canonical Allele Identifier: CA409212498

Gene: CD40

Linked Data

• gnomAD v4: 20-46129037-G-T
• MyVariant Identifiers: chr20:g.44757676G>T (hg19) ; chr20:g.46129037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129037G>T , CM000682.2:g.46129037G>T	GRCh38
NC_000020.10:g.44757676G>T , CM000682.1:g.44757676G>T	GRCh37
NC_000020.9:g.44191083G>T	NCBI36
NG_007279.1:g.15771G>T , LRG_40:g.15771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.914G>T	ENSP00000512096.1:n.914G>T
ENST00000695675.1:n.2707G>T
ENST00000372285.8:c.831G>T MANE Select	ENSP00000361359.3:p.Gln277His
ENST00000372276.7:c.*157G>T	ENSP00000361350.3:n.*157G>T
ENST00000372285.7:c.831G>T	ENSP00000361359.3:p.Gln277His
ENST00000466205.5:c.733G>T
ENST00000489304.5:n.907G>T
ENST00000620709.4:c.*378G>T	ENSP00000484074.1:n.*378G>T
NM_001250.5:c.831G>T	NP_001241.1:p.Gln277His
NM_001302753.1:c.*157G>T	NP_001289682.1:n.*157G>T
NM_152854.3:c.*157G>T	NP_690593.1:n.*157G>T
NR_126502.1:n.924G>T
XM_005260617.2:c.843G>T	XP_005260674.1:p.Gln281His
XM_005260619.2:c.687G>T	XP_005260676.1:p.Gln229His
XR_936660.1:n.831G>T
NM_001322421.1:c.843G>T	NP_001309350.1:p.Gln281His
NM_001322422.1:c.675G>T	NP_001309351.1:p.Gln225His
NM_001362758.1:c.*157G>T	NP_001349687.1:n.*157G>T
NR_136327.1:n.827G>T
XM_005260619.3:c.687G>T	XP_005260676.1:p.Gln229His
XM_017028135.1:c.866G>T	XP_016883624.1:p.Ser289Ile
XM_017028136.1:c.764G>T	XP_016883625.1:p.Ser255Ile
NM_001250.6:c.831G>T MANE Select	NP_001241.1:p.Gln277His
NM_001302753.2:c.*157G>T	NP_001289682.1:n.*157G>T
NM_001322421.2:c.843G>T	NP_001309350.1:p.Gln281His
NM_001322422.2:c.675G>T	NP_001309351.1:p.Gln225His
NM_001362758.2:c.*157G>T	NP_001349687.1:n.*157G>T
NM_152854.4:c.*157G>T	NP_690593.1:n.*157G>T
NR_126502.2:n.864G>T
NR_136327.2:n.767G>T