Canonical Allele Identifier: CA518856002

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2877579
• ClinVar RCV Id: RCV003623626
• dbSNP Id: rs1383502138
• gnomAD v2: X-135741421-C-A
• MyVariant Identifiers: chrX:g.135741421C>A (hg19) ; chrX:g.136659262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659262C>A , CM000685.2:g.136659262C>A	GRCh38
NC_000023.10:g.135741421C>A , CM000685.1:g.135741421C>A	GRCh37
NC_000023.9:g.135569087C>A	NCBI36
NG_007280.1:g.16086C>A , LRG_141:g.16086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*251C>A	ENSP00000512122.1:n.*251C>A
ENST00000695725.1:c.*188C>A	ENSP00000512123.1:n.*188C>A
ENST00000695726.1:n.2601C>A
ENST00000695729.1:n.3436C>A
ENST00000370629.7:c.633C>A MANE Select	ENSP00000359663.2:p.Thr211=
ENST00000370628.2:c.570C>A	ENSP00000359662.2:p.Thr190=
ENST00000370629.6:c.633C>A	ENSP00000359663.2:p.Thr211=
NM_000074.2:c.633C>A , LRG_141t1:c.633C>A	NP_000065.1:p.Thr211=
NM_000074.3:c.633C>A MANE Select	NP_000065.1:p.Thr211=