Canonical Allele Identifier: CA414752241

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 1381599
• ClinVar RCV Id: RCV001895461
• dbSNP Id: rs2148550585
• MyVariant Identifiers: chrX:g.135730565T>C (hg19) ; chrX:g.136648406T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136648406T>C , CM000685.2:g.136648406T>C	GRCh38
NC_000023.10:g.135730565T>C , CM000685.1:g.135730565T>C	GRCh37
NC_000023.9:g.135558231T>C	NCBI36
NG_007280.1:g.5230T>C , LRG_141:g.5230T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.156+2T>C	ENSP00000512122.1:n.156+2T>C
ENST00000695725.1:c.156+2T>C	ENSP00000512123.1:n.156+2T>C
ENST00000695726.1:n.199+2T>C
ENST00000695727.1:n.143+2T>C
ENST00000695728.1:n.143+2T>C
ENST00000370629.7:c.156+2T>C MANE Select	ENSP00000359663.2:n.156+2T>C
ENST00000370628.2:c.156+2T>C	ENSP00000359662.2:n.156+2T>C
ENST00000370629.6:c.156+2T>C	ENSP00000359663.2:n.156+2T>C
NM_000074.2:c.156+2T>C , LRG_141t1:c.156+2T>C	NP_000065.1:n.156+2T>C
NM_000074.3:c.156+2T>C MANE Select	NP_000065.1:n.156+2T>C