Canonical Allele Identifier: CA10603705

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 280565
• ClinVar RCV Id: RCV000404454
• dbSNP Id: rs886041747
• MyVariant Identifiers: chrX:g.135741426del (hg19) ; chrX:g.136659267del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659267del , CM000685.2:g.136659267del	GRCh38
NC_000023.10:g.135741426del , CM000685.1:g.135741426del	GRCh37
NC_000023.9:g.135569092del	NCBI36
NG_007280.1:g.16091del , LRG_141:g.16091del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*256del	ENSP00000512122.1:n.*256del
ENST00000695725.1:c.*193del	ENSP00000512123.1:n.*193del
ENST00000695726.1:n.2606del
ENST00000695729.1:n.3441del
ENST00000370629.7:c.638del MANE Select	ENSP00000359663.2:p.Ser213IlefsTer29
ENST00000370628.2:c.575del	ENSP00000359662.2:p.Ser192IlefsTer29
ENST00000370629.6:c.638del	ENSP00000359663.2:p.Ser213IlefsTer29
NM_000074.2:c.638del , LRG_141t1:c.638del	NP_000065.1:p.Ser213IlefsTer29
NM_000074.3:c.638del MANE Select	NP_000065.1:p.Ser213IlefsTer29