Canonical Allele Identifier: CA1017964330

Gene: CD40

Linked Data

• dbSNP Id: rs778653844
• gnomAD v3: 20-46129140-C-G
• gnomAD v4: 20-46129140-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129140C>G , CM000682.2:g.46129140C>G	GRCh38
NC_000020.10:g.44757779C>G , CM000682.1:g.44757779C>G	GRCh37
NC_000020.9:g.44191186C>G	NCBI36
NG_007279.1:g.15874C>G , LRG_40:g.15874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1017C>G	ENSP00000512096.1:n.1017C>G
ENST00000695675.1:n.2810C>G
ENST00000372285.8:c.*100C>G MANE Select	ENSP00000361359.3:n.*100C>G
ENST00000372276.7:c.*260C>G	ENSP00000361350.3:n.*260C>G
ENST00000372285.7:c.*100C>G	ENSP00000361359.3:n.*100C>G
ENST00000489304.5:n.1010C>G
ENST00000620709.4:c.*481C>G	ENSP00000484074.1:n.*481C>G
NM_001250.5:c.*100C>G	NP_001241.1:n.*100C>G
NM_001302753.1:c.*260C>G	NP_001289682.1:n.*260C>G
NM_152854.3:c.*260C>G	NP_690593.1:n.*260C>G
NR_126502.1:n.1027C>G
XM_005260617.2:c.*100C>G	XP_005260674.1:n.*100C>G
XM_005260619.2:c.*100C>G	XP_005260676.1:n.*100C>G
NM_001322421.1:c.*100C>G	NP_001309350.1:n.*100C>G
NM_001322422.1:c.*100C>G	NP_001309351.1:n.*100C>G
NM_001362758.1:c.*260C>G	NP_001349687.1:n.*260C>G
NR_136327.1:n.930C>G
XM_005260619.3:c.*100C>G	XP_005260676.1:n.*100C>G
XM_017028135.1:c.969C>G	XP_016883624.1:p.His323Gln
XM_017028136.1:c.867C>G	XP_016883625.1:p.His289Gln
NM_001250.6:c.*100C>G MANE Select	NP_001241.1:n.*100C>G
NM_001302753.2:c.*260C>G	NP_001289682.1:n.*260C>G
NM_001322421.2:c.*100C>G	NP_001309350.1:n.*100C>G
NM_001322422.2:c.*100C>G	NP_001309351.1:n.*100C>G
NM_001362758.2:c.*260C>G	NP_001349687.1:n.*260C>G
NM_152854.4:c.*260C>G	NP_690593.1:n.*260C>G
NR_126502.2:n.967C>G
NR_136327.2:n.870C>G