Canonical Allele Identifier: CA518856076

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2831807
• ClinVar RCV Id: RCV003622921
• gnomAD v4: X-136659379-C-A
• MyVariant Identifiers: chrX:g.135741538C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659379C>A , CM000685.2:g.136659379C>A	GRCh38
NC_000023.10:g.135741538C>A , CM000685.1:g.135741538C>A	GRCh37
NC_000023.9:g.135569204C>A	NCBI36
NG_007280.1:g.16203C>A , LRG_141:g.16203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*368C>A	ENSP00000512122.1:n.*368C>A
ENST00000695725.1:c.*305C>A	ENSP00000512123.1:n.*305C>A
ENST00000695726.1:n.2718C>A
ENST00000695729.1:n.3553C>A
ENST00000370629.7:c.750C>A MANE Select	ENSP00000359663.2:p.Gly250=
ENST00000370628.2:c.687C>A	ENSP00000359662.2:p.Gly229=
ENST00000370629.6:c.750C>A	ENSP00000359663.2:p.Gly250=
NM_000074.2:c.750C>A , LRG_141t1:c.750C>A	NP_000065.1:p.Gly250=
NM_000074.3:c.750C>A MANE Select	NP_000065.1:p.Gly250=