Canonical Allele Identifier: CA414757091

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 530671
• ClinVar RCV Id: RCV000636648
• dbSNP Id: rs193922136
• COSMIC: COSM6185465
• MyVariant Identifiers: chrX:g.135741549C>A (hg19) ; chrX:g.136659390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659390C>A , CM000685.2:g.136659390C>A	GRCh38
NC_000023.10:g.135741549C>A , CM000685.1:g.135741549C>A	GRCh37
NC_000023.9:g.135569215C>A	NCBI36
NG_007280.1:g.16214C>A , LRG_141:g.16214C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*379C>A	ENSP00000512122.1:n.*379C>A
ENST00000695725.1:c.*316C>A	ENSP00000512123.1:n.*316C>A
ENST00000695726.1:n.2729C>A
ENST00000695729.1:n.3564C>A
ENST00000370629.7:c.761C>A MANE Select	ENSP00000359663.2:p.Thr254Lys
ENST00000370628.2:c.698C>A	ENSP00000359662.2:p.Thr233Lys
ENST00000370629.6:c.761C>A	ENSP00000359663.2:p.Thr254Lys
NM_000074.2:c.761C>A , LRG_141t1:c.761C>A	NP_000065.1:p.Thr254Lys
NM_000074.3:c.761C>A MANE Select	NP_000065.1:p.Thr254Lys