Canonical Allele Identifier: CA236367

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 191255
• ClinVar RCV Id: RCV000171445
• dbSNP Id: rs786205607
• MyVariant Identifiers: chrX:g.135741507_135741508del (hg19) ; chrX:g.136659348_136659349del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659348_136659349del , CM000685.2:g.136659348_136659349del	GRCh38
NC_000023.10:g.135741507_135741508del , CM000685.1:g.135741507_135741508del	GRCh37
NC_000023.9:g.135569173_135569174del	NCBI36
NG_007280.1:g.16172_16173del , LRG_141:g.16172_16173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*337_*338del	ENSP00000512122.1:n.*337_*338del
ENST00000695725.1:c.*274_*275del	ENSP00000512123.1:n.*274_*275del
ENST00000695726.1:n.2687_2688del
ENST00000695729.1:n.3522_3523del
ENST00000370629.7:c.719_720del MANE Select	ENSP00000359663.2:p.Asn240SerfsTer3
ENST00000370628.2:c.656_657del	ENSP00000359662.2:p.Asn219SerfsTer3
ENST00000370629.6:c.719_720del	ENSP00000359663.2:p.Asn240SerfsTer3
NM_000074.2:c.719_720del , LRG_141t1:c.719_720del	NP_000065.1:p.Asn240SerfsTer3
NM_000074.3:c.719_720del MANE Select	NP_000065.1:p.Asn240SerfsTer3