Canonical Allele Identifier: CA414755925

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 1176960
• ClinVar RCV Id: RCV001532716
• dbSNP Id: rs2148553726
• MyVariant Identifiers: chrX:g.135741366T>G (hg19) ; chrX:g.136659207T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659207T>G , CM000685.2:g.136659207T>G	GRCh38
NC_000023.10:g.135741366T>G , CM000685.1:g.135741366T>G	GRCh37
NC_000023.9:g.135569032T>G	NCBI36
NG_007280.1:g.16031T>G , LRG_141:g.16031T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*196T>G	ENSP00000512122.1:n.*196T>G
ENST00000695725.1:c.*133T>G	ENSP00000512123.1:n.*133T>G
ENST00000695726.1:n.2546T>G
ENST00000695729.1:n.3381T>G
ENST00000370629.7:c.578T>G MANE Select	ENSP00000359663.2:p.Leu193Arg
ENST00000370628.2:c.515T>G	ENSP00000359662.2:p.Leu172Arg
ENST00000370629.6:c.578T>G	ENSP00000359663.2:p.Leu193Arg
NM_000074.2:c.578T>G , LRG_141t1:c.578T>G	NP_000065.1:p.Leu193Arg
NM_000074.3:c.578T>G MANE Select	NP_000065.1:p.Leu193Arg