Canonical Allele Identifier: CA9888689

Gene: CD40

Linked Data

• dbSNP Id: rs748815275
• ExAC: 20:44757776 G / C
• gnomAD v2: 20-44757776-G-C
• gnomAD v3: 20-46129137-G-C
• gnomAD v4: 20-46129137-G-C
• MyVariant Identifiers: chr20:g.44757776G>C (hg19) ; chr20:g.46129137G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129137G>C , CM000682.2:g.46129137G>C	GRCh38
NC_000020.10:g.44757776G>C , CM000682.1:g.44757776G>C	GRCh37
NC_000020.9:g.44191183G>C	NCBI36
NG_007279.1:g.15871G>C , LRG_40:g.15871G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1014G>C	ENSP00000512096.1:n.1014G>C
ENST00000695675.1:n.2807G>C
ENST00000372285.8:c.*97G>C MANE Select	ENSP00000361359.3:n.*97G>C
ENST00000372276.7:c.*257G>C	ENSP00000361350.3:n.*257G>C
ENST00000372285.7:c.*97G>C	ENSP00000361359.3:n.*97G>C
ENST00000489304.5:n.1007G>C
ENST00000620709.4:c.*478G>C	ENSP00000484074.1:n.*478G>C
NM_001250.5:c.*97G>C	NP_001241.1:n.*97G>C
NM_001302753.1:c.*257G>C	NP_001289682.1:n.*257G>C
NM_152854.3:c.*257G>C	NP_690593.1:n.*257G>C
NR_126502.1:n.1024G>C
XM_005260617.2:c.*97G>C	XP_005260674.1:n.*97G>C
XM_005260619.2:c.*97G>C	XP_005260676.1:n.*97G>C
NM_001322421.1:c.*97G>C	NP_001309350.1:n.*97G>C
NM_001322422.1:c.*97G>C	NP_001309351.1:n.*97G>C
NM_001362758.1:c.*257G>C	NP_001349687.1:n.*257G>C
NR_136327.1:n.927G>C
XM_005260619.3:c.*97G>C	XP_005260676.1:n.*97G>C
XM_017028135.1:c.966G>C	XP_016883624.1:p.Trp322Cys
XM_017028136.1:c.864G>C	XP_016883625.1:p.Trp288Cys
NM_001250.6:c.*97G>C MANE Select	NP_001241.1:n.*97G>C
NM_001302753.2:c.*257G>C	NP_001289682.1:n.*257G>C
NM_001322421.2:c.*97G>C	NP_001309350.1:n.*97G>C
NM_001322422.2:c.*97G>C	NP_001309351.1:n.*97G>C
NM_001362758.2:c.*257G>C	NP_001349687.1:n.*257G>C
NM_152854.4:c.*257G>C	NP_690593.1:n.*257G>C
NR_126502.2:n.964G>C
NR_136327.2:n.867G>C