Canonical Allele Identifier: CA9888695

Gene: CD40

Linked Data

• dbSNP Id: rs761154625
• ExAC: 20:44757807 C / T
• gnomAD v2: 20-44757807-C-T
• gnomAD v3: 20-46129168-C-T
• gnomAD v4: 20-46129168-C-T
• MyVariant Identifiers: chr20:g.44757807C>T (hg19) ; chr20:g.46129168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129168C>T , CM000682.2:g.46129168C>T	GRCh38
NC_000020.10:g.44757807C>T , CM000682.1:g.44757807C>T	GRCh37
NC_000020.9:g.44191214C>T	NCBI36
NG_007279.1:g.15902C>T , LRG_40:g.15902C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1045C>T	ENSP00000512096.1:n.1045C>T
ENST00000695675.1:n.2838C>T
ENST00000372285.8:c.*128C>T MANE Select	ENSP00000361359.3:n.*128C>T
ENST00000372276.7:c.*288C>T	ENSP00000361350.3:n.*288C>T
ENST00000372285.7:c.*128C>T	ENSP00000361359.3:n.*128C>T
ENST00000489304.5:n.1038C>T
ENST00000620709.4:c.*509C>T	ENSP00000484074.1:n.*509C>T
NM_001250.5:c.*128C>T	NP_001241.1:n.*128C>T
NM_001302753.1:c.*288C>T	NP_001289682.1:n.*288C>T
NM_152854.3:c.*288C>T	NP_690593.1:n.*288C>T
NR_126502.1:n.1055C>T
XM_005260617.2:c.*128C>T	XP_005260674.1:n.*128C>T
XM_005260619.2:c.*128C>T	XP_005260676.1:n.*128C>T
NM_001322421.1:c.*128C>T	NP_001309350.1:n.*128C>T
NM_001322422.1:c.*128C>T	NP_001309351.1:n.*128C>T
NM_001362758.1:c.*288C>T	NP_001349687.1:n.*288C>T
NR_136327.1:n.958C>T
XM_005260619.3:c.*128C>T	XP_005260676.1:n.*128C>T
XM_017028135.1:c.*25C>T	XP_016883624.1:n.*25C>T
XM_017028136.1:c.*25C>T	XP_016883625.1:n.*25C>T
NM_001250.6:c.*128C>T MANE Select	NP_001241.1:n.*128C>T
NM_001302753.2:c.*288C>T	NP_001289682.1:n.*288C>T
NM_001322421.2:c.*128C>T	NP_001309350.1:n.*128C>T
NM_001322422.2:c.*128C>T	NP_001309351.1:n.*128C>T
NM_001362758.2:c.*288C>T	NP_001349687.1:n.*288C>T
NM_152854.4:c.*288C>T	NP_690593.1:n.*288C>T
NR_126502.2:n.995C>T
NR_136327.2:n.898C>T