Canonical Allele Identifier: CA2695236786
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 2912969
ClinVar RCV Id: RCV003622250
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659223dup , CM000685.2:g.136659223dup GRCh38
NC_000023.10:g.135741382dup , CM000685.1:g.135741382dup GRCh37
NC_000023.9:g.135569048dup NCBI36
NG_007280.1:g.16047dup , LRG_141:g.16047dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*212dup ENSP00000512122.1:n.*212dup
ENST00000695725.1:c.*149dup ENSP00000512123.1:n.*149dup
ENST00000695726.1:n.2562dup
ENST00000695729.1:n.3397dup
ENST00000370629.7:c.594dup MANE Select ENSP00000359663.2:p.Gly199ArgfsTer2
ENST00000370628.2:c.531dup ENSP00000359662.2:p.Gly178ArgfsTer2
ENST00000370629.6:c.594dup ENSP00000359663.2:p.Gly199ArgfsTer2
NM_000074.2:c.594dup , LRG_141t1:c.594dup NP_000065.1:p.Gly199ArgfsTer2
NM_000074.3:c.594dup MANE Select NP_000065.1:p.Gly199ArgfsTer2
Search 100 bp 5'
Search 100 bp 3'