Canonical Allele Identifier: CA2366533630
Community Standard Title: NM_001250.6(CD40):c.676-114G=
Gene: CD40 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128768G= , CM000682.2:g.46128768G= GRCh38
NC_000020.10:g.44757407G= , CM000682.1:g.44757407G= GRCh37
NC_000020.9:g.44190814G= NCBI36
NG_007279.1:g.15502G= , LRG_40:g.15502G=

Transcript Alleles

HGVS Amino-acid Change
NM_001250.6:c.676-114G= MANE Select NP_001241.1:n.676-114G=
ENST00000372285.8:c.676-114G= MANE Select ENSP00000361359.3:n.676-114G=
NM_001250.5:c.676-114G= NP_001241.1:n.676-114G=
NM_001302753.1:c.*2-114G= NP_001289682.1:n.*2-114G=
NM_001302753.2:c.*2-114G= NP_001289682.1:n.*2-114G=
NM_001322421.1:c.688-114G= NP_001309350.1:n.688-114G=
NM_001322421.2:c.688-114G= NP_001309350.1:n.688-114G=
NM_001322422.1:c.520-114G= NP_001309351.1:n.520-114G=
NM_001322422.2:c.520-114G= NP_001309351.1:n.520-114G=
NM_001362758.1:c.*2-114G= NP_001349687.1:n.*2-114G=
NM_001362758.2:c.*2-114G= NP_001349687.1:n.*2-114G=
NM_152854.3:c.*2-114G= NP_690593.1:n.*2-114G=
NM_152854.4:c.*2-114G= NP_690593.1:n.*2-114G=
NR_126502.1:n.769-114G=
NR_126502.2:n.709-114G=
NR_136327.1:n.672-114G=
NR_136327.2:n.612-114G=
ENST00000372276.7:c.*2-114G= ENSP00000361350.3:n.*2-114G=
ENST00000372285.7:c.676-114G= ENSP00000361359.3:n.676-114G=
ENST00000466205.5:c.578-114G=
ENST00000477696.5:n.649-114G=
ENST00000477696.6:c.678-114G= ENSP00000512095.1:n.678-114G=
ENST00000489304.5:n.752-114G=
ENST00000489304.6:c.759-114G= ENSP00000512096.1:n.759-114G=
ENST00000620709.4:c.*223-114G= ENSP00000484074.1:n.*223-114G=
ENST00000695675.1:n.2552-114G=
XM_005260617.2:c.688-114G= XP_005260674.1:n.688-114G=
XM_005260619.2:c.532-114G= XP_005260676.1:n.532-114G=
XM_005260619.3:c.532-114G= XP_005260676.1:n.532-114G=
XM_017028135.1:c.711-114G= XP_016883624.1:n.711-114G=
XM_017028136.1:c.609-114G= XP_016883625.1:n.609-114G=
XR_936660.1:n.676-114G=