Canonical Allele Identifier: CA10528159

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2981264
• ClinVar RCV Id: RCV003832406
• dbSNP Id: rs201638760
• ExAC: X:135741340 G / A
• gnomAD v2: X-135741340-G-A
• gnomAD v3: X-136659181-G-A
• gnomAD v4: X-136659181-G-A
• MyVariant Identifiers: chrX:g.135741340G>A (hg19) ; chrX:g.136659181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659181G>A , CM000685.2:g.136659181G>A	GRCh38
NC_000023.10:g.135741340G>A , CM000685.1:g.135741340G>A	GRCh37
NC_000023.9:g.135569006G>A	NCBI36
NG_007280.1:g.16005G>A , LRG_141:g.16005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*170G>A	ENSP00000512122.1:n.*170G>A
ENST00000695725.1:c.*107G>A	ENSP00000512123.1:n.*107G>A
ENST00000695726.1:n.2520G>A
ENST00000695729.1:n.3355G>A
ENST00000370629.7:c.552G>A MANE Select	ENSP00000359663.2:p.Ser184=
ENST00000370628.2:c.489G>A	ENSP00000359662.2:p.Ser163=
ENST00000370629.6:c.552G>A	ENSP00000359663.2:p.Ser184=
NM_000074.2:c.552G>A , LRG_141t1:c.552G>A	NP_000065.1:p.Ser184=
NM_000074.3:c.552G>A MANE Select	NP_000065.1:p.Ser184=