Canonical Allele Identifier: CA260202

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 35811
• ClinVar RCV Id: RCV000029463
• dbSNP Id: rs193922134
• MyVariant Identifiers: chrX:g.135732457del (hg19) ; chrX:g.136650298del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136650298del , CM000685.2:g.136650298del	GRCh38
NC_000023.10:g.135732457del , CM000685.1:g.135732457del	GRCh37
NC_000023.9:g.135560123del	NCBI36
NG_007280.1:g.7122del , LRG_141:g.7122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.189del	ENSP00000512122.1:p.Phe63LeufsTer4
ENST00000695725.1:c.156+1894del	ENSP00000512123.1:n.156+1894del
ENST00000695726.1:n.232del
ENST00000695727.1:n.176del
ENST00000695728.1:n.176del
ENST00000370629.7:c.189del MANE Select	ENSP00000359663.2:p.Phe63LeufsTer4
ENST00000370628.2:c.189del	ENSP00000359662.2:p.Phe63LeufsTer4
ENST00000370629.6:c.189del	ENSP00000359663.2:p.Phe63LeufsTer4
NM_000074.2:c.189del , LRG_141t1:c.189del	NP_000065.1:p.Phe63LeufsTer4
NM_000074.3:c.189del MANE Select	NP_000065.1:p.Phe63LeufsTer4