Canonical Allele Identifier: CA10528167
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 1911308
ClinVar RCV Id: RCV002578549
dbSNP Id: rs768138040
ExAC: X:135741431 G / A
gnomAD v3: X-136659272-G-A
gnomAD v4: X-136659272-G-A
COSMIC: COSM4629608
MyVariant Identifiers: chrX:g.135741431G>A (hg19) chrX:g.136659272G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659272G>A , CM000685.2:g.136659272G>A GRCh38
NC_000023.10:g.135741431G>A , CM000685.1:g.135741431G>A GRCh37
NC_000023.9:g.135569097G>A NCBI36
NG_007280.1:g.16096G>A , LRG_141:g.16096G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*261G>A ENSP00000512122.1:n.*261G>A
ENST00000695725.1:c.*198G>A ENSP00000512123.1:n.*198G>A
ENST00000695726.1:n.2611G>A
ENST00000695729.1:n.3446G>A
ENST00000370629.7:c.643G>A MANE Select ENSP00000359663.2:p.Ala215Thr
ENST00000370628.2:c.580G>A ENSP00000359662.2:p.Ala194Thr
ENST00000370629.6:c.643G>A ENSP00000359663.2:p.Ala215Thr
NM_000074.2:c.643G>A , LRG_141t1:c.643G>A NP_000065.1:p.Ala215Thr
NM_000074.3:c.643G>A MANE Select NP_000065.1:p.Ala215Thr
Search 100 bp 5'
Search 100 bp 3'