Canonical Allele Identifier: CA2697544767
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 2745837
ClinVar RCV Id: RCV003511598

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659330del , CM000685.2:g.136659330del GRCh38
NC_000023.10:g.135741489del , CM000685.1:g.135741489del GRCh37
NC_000023.9:g.135569155del NCBI36
NG_007280.1:g.16154del , LRG_141:g.16154del

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*319del ENSP00000512122.1:n.*319del
ENST00000695725.1:c.*256del ENSP00000512123.1:n.*256del
ENST00000695726.1:n.2669del
ENST00000695729.1:n.3504del
ENST00000370629.7:c.701del MANE Select ENSP00000359663.2:p.Gly234ValfsTer8
ENST00000370628.2:c.638del ENSP00000359662.2:p.Gly213ValfsTer8
ENST00000370629.6:c.701del ENSP00000359663.2:p.Gly234ValfsTer8
NM_000074.2:c.701del , LRG_141t1:c.701del NP_000065.1:p.Gly234ValfsTer8
NM_000074.3:c.701del MANE Select NP_000065.1:p.Gly234ValfsTer8