Canonical Allele Identifier: CA510657840
Gene: CD40 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.44757592T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.46128953T>C , CM000682.2:g.46128953T>C GRCh38
NC_000020.10:g.44757592T>C , CM000682.1:g.44757592T>C GRCh37
NC_000020.9:g.44190999T>C NCBI36
NG_007279.1:g.15687T>C , LRG_40:g.15687T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000477696.6:c.749T>C ENSP00000512095.1:n.749T>C
ENST00000489304.6:c.830T>C ENSP00000512096.1:n.830T>C
ENST00000695675.1:n.2623T>C
ENST00000372285.8:c.747T>C MANE Select ENSP00000361359.3:p.Ala249=
ENST00000372276.7:c.*73T>C ENSP00000361350.3:n.*73T>C
ENST00000372285.7:c.747T>C ENSP00000361359.3:p.Ala249=
ENST00000466205.5:c.649T>C
ENST00000477696.5:n.720T>C
ENST00000489304.5:n.823T>C
ENST00000620709.4:c.*294T>C ENSP00000484074.1:n.*294T>C
NM_001250.5:c.747T>C NP_001241.1:p.Ala249=
NM_001302753.1:c.*73T>C NP_001289682.1:n.*73T>C
NM_152854.3:c.*73T>C NP_690593.1:n.*73T>C
NR_126502.1:n.840T>C
XM_005260617.2:c.759T>C XP_005260674.1:p.Ala253=
XM_005260619.2:c.603T>C XP_005260676.1:p.Ala201=
XR_936660.1:n.747T>C
NM_001322421.1:c.759T>C NP_001309350.1:p.Ala253=
NM_001322422.1:c.591T>C NP_001309351.1:p.Ala197=
NM_001362758.1:c.*73T>C NP_001349687.1:n.*73T>C
NR_136327.1:n.743T>C
XM_005260619.3:c.603T>C XP_005260676.1:p.Ala201=
XM_017028135.1:c.782T>C XP_016883624.1:p.Leu261Pro
XM_017028136.1:c.680T>C XP_016883625.1:p.Leu227Pro
NM_001250.6:c.747T>C MANE Select NP_001241.1:p.Ala249=
NM_001302753.2:c.*73T>C NP_001289682.1:n.*73T>C
NM_001322421.2:c.759T>C NP_001309350.1:p.Ala253=
NM_001322422.2:c.591T>C NP_001309351.1:p.Ala197=
NM_001362758.2:c.*73T>C NP_001349687.1:n.*73T>C
NM_152854.4:c.*73T>C NP_690593.1:n.*73T>C
NR_126502.2:n.780T>C
NR_136327.2:n.683T>C