Canonical Allele Identifier: CA414755569

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 976233
• ClinVar RCV Id: RCV001253461
• dbSNP Id: rs104894777
• MyVariant Identifiers: chrX:g.135741206T>C (hg19) ; chrX:g.136659047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659047T>C , CM000685.2:g.136659047T>C	GRCh38
NC_000023.10:g.135741206T>C , CM000685.1:g.135741206T>C	GRCh37
NC_000023.9:g.135568872T>C	NCBI36
NG_007280.1:g.15871T>C , LRG_141:g.15871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*36T>C	ENSP00000512122.1:n.*36T>C
ENST00000695725.1:c.165T>C	ENSP00000512123.1:p.Ser55=
ENST00000695726.1:n.2386T>C
ENST00000695729.1:n.3221T>C
ENST00000370629.7:c.418T>C MANE Select	ENSP00000359663.2:p.Trp140Arg
ENST00000370628.2:c.355T>C	ENSP00000359662.2:p.Trp119Arg
ENST00000370629.6:c.418T>C	ENSP00000359663.2:p.Trp140Arg
NM_000074.2:c.418T>C , LRG_141t1:c.418T>C	NP_000065.1:p.Trp140Arg
NM_000074.3:c.418T>C MANE Select	NP_000065.1:p.Trp140Arg