Canonical Allele Identifier: CA2653134036

Gene: CD40

Linked Data

• gnomAD v4: 20-46129131-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46129131G>C , CM000682.2:g.46129131G>C	GRCh38
NC_000020.10:g.44757770G>C , CM000682.1:g.44757770G>C	GRCh37
NC_000020.9:g.44191177G>C	NCBI36
NG_007279.1:g.15865G>C , LRG_40:g.15865G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000489304.6:c.1008G>C	ENSP00000512096.1:n.1008G>C
ENST00000695675.1:n.2801G>C
ENST00000372285.8:c.*91G>C MANE Select	ENSP00000361359.3:n.*91G>C
ENST00000372276.7:c.*251G>C	ENSP00000361350.3:n.*251G>C
ENST00000372285.7:c.*91G>C	ENSP00000361359.3:n.*91G>C
ENST00000489304.5:n.1001G>C
ENST00000620709.4:c.*472G>C	ENSP00000484074.1:n.*472G>C
NM_001250.5:c.*91G>C	NP_001241.1:n.*91G>C
NM_001302753.1:c.*251G>C	NP_001289682.1:n.*251G>C
NM_152854.3:c.*251G>C	NP_690593.1:n.*251G>C
NR_126502.1:n.1018G>C
XM_005260617.2:c.*91G>C	XP_005260674.1:n.*91G>C
XM_005260619.2:c.*91G>C	XP_005260676.1:n.*91G>C
NM_001322421.1:c.*91G>C	NP_001309350.1:n.*91G>C
NM_001322422.1:c.*91G>C	NP_001309351.1:n.*91G>C
NM_001362758.1:c.*251G>C	NP_001349687.1:n.*251G>C
NR_136327.1:n.921G>C
XM_005260619.3:c.*91G>C	XP_005260676.1:n.*91G>C
XM_017028135.1:c.960G>C	XP_016883624.1:p.Arg320Ser
XM_017028136.1:c.858G>C	XP_016883625.1:p.Arg286Ser
NM_001250.6:c.*91G>C MANE Select	NP_001241.1:n.*91G>C
NM_001302753.2:c.*251G>C	NP_001289682.1:n.*251G>C
NM_001322421.2:c.*91G>C	NP_001309350.1:n.*91G>C
NM_001322422.2:c.*91G>C	NP_001309351.1:n.*91G>C
NM_001362758.2:c.*251G>C	NP_001349687.1:n.*251G>C
NM_152854.4:c.*251G>C	NP_690593.1:n.*251G>C
NR_126502.2:n.958G>C
NR_136327.2:n.861G>C