Canonical Allele Identifier: CA414756458

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 636364
• ClinVar RCV Id: RCV000788160 ; RCV001869202
• dbSNP Id: rs1603321840
• MyVariant Identifiers: chrX:g.135741464G>A (hg19) ; chrX:g.136659305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659305G>A , CM000685.2:g.136659305G>A	GRCh38
NC_000023.10:g.135741464G>A , CM000685.1:g.135741464G>A	GRCh37
NC_000023.9:g.135569130G>A	NCBI36
NG_007280.1:g.16129G>A , LRG_141:g.16129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*294G>A	ENSP00000512122.1:n.*294G>A
ENST00000695725.1:c.*231G>A	ENSP00000512123.1:n.*231G>A
ENST00000695726.1:n.2644G>A
ENST00000695729.1:n.3479G>A
ENST00000370629.7:c.676G>A MANE Select	ENSP00000359663.2:p.Gly226Arg
ENST00000370628.2:c.613G>A	ENSP00000359662.2:p.Gly205Arg
ENST00000370629.6:c.676G>A	ENSP00000359663.2:p.Gly226Arg
NM_000074.2:c.676G>A , LRG_141t1:c.676G>A	NP_000065.1:p.Gly226Arg
NM_000074.3:c.676G>A MANE Select	NP_000065.1:p.Gly226Arg