Canonical Allele Identifier: CA409212131

Gene: CD40

Linked Data

• dbSNP Id: rs759961210
• gnomAD v2: 20-44757624-C-A
• MyVariant Identifiers: chr20:g.44757624C>A (hg19) ; chr20:g.46128985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.46128985C>A , CM000682.2:g.46128985C>A	GRCh38
NC_000020.10:g.44757624C>A , CM000682.1:g.44757624C>A	GRCh37
NC_000020.9:g.44191031C>A	NCBI36
NG_007279.1:g.15719C>A , LRG_40:g.15719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477696.6:c.781C>A	ENSP00000512095.1:n.781C>A
ENST00000489304.6:c.862C>A	ENSP00000512096.1:n.862C>A
ENST00000695675.1:n.2655C>A
ENST00000372285.8:c.779C>A MANE Select	ENSP00000361359.3:p.Pro260Gln
ENST00000372276.7:c.*105C>A	ENSP00000361350.3:n.*105C>A
ENST00000372285.7:c.779C>A	ENSP00000361359.3:p.Pro260Gln
ENST00000466205.5:c.681C>A
ENST00000477696.5:n.752C>A
ENST00000489304.5:n.855C>A
ENST00000620709.4:c.*326C>A	ENSP00000484074.1:n.*326C>A
NM_001250.5:c.779C>A	NP_001241.1:p.Pro260Gln
NM_001302753.1:c.*105C>A	NP_001289682.1:n.*105C>A
NM_152854.3:c.*105C>A	NP_690593.1:n.*105C>A
NR_126502.1:n.872C>A
XM_005260617.2:c.791C>A	XP_005260674.1:p.Pro264Gln
XM_005260619.2:c.635C>A	XP_005260676.1:p.Pro212Gln
XR_936660.1:n.779C>A
NM_001322421.1:c.791C>A	NP_001309350.1:p.Pro264Gln
NM_001322422.1:c.623C>A	NP_001309351.1:p.Pro208Gln
NM_001362758.1:c.*105C>A	NP_001349687.1:n.*105C>A
NR_136327.1:n.775C>A
XM_005260619.3:c.635C>A	XP_005260676.1:p.Pro212Gln
XM_017028135.1:c.814C>A	XP_016883624.1:p.Arg272=
XM_017028136.1:c.712C>A	XP_016883625.1:p.Arg238=
NM_001250.6:c.779C>A MANE Select	NP_001241.1:p.Pro260Gln
NM_001302753.2:c.*105C>A	NP_001289682.1:n.*105C>A
NM_001322421.2:c.791C>A	NP_001309350.1:p.Pro264Gln
NM_001322422.2:c.623C>A	NP_001309351.1:p.Pro208Gln
NM_001362758.2:c.*105C>A	NP_001349687.1:n.*105C>A
NM_152854.4:c.*105C>A	NP_690593.1:n.*105C>A
NR_126502.2:n.812C>A
NR_136327.2:n.715C>A