Canonical Allele Identifier: CA10528166
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 1921551
ClinVar RCV Id: RCV002621374
dbSNP Id: rs761216947
ExAC: X:135741430 C / T
gnomAD v2: X-135741430-C-T
gnomAD v3: X-136659271-C-T
gnomAD v4: X-136659271-C-T
COSMIC: COSM4670504
MyVariant Identifiers: chrX:g.135741430C>T (hg19) chrX:g.136659271C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659271C>T , CM000685.2:g.136659271C>T GRCh38
NC_000023.10:g.135741430C>T , CM000685.1:g.135741430C>T GRCh37
NC_000023.9:g.135569096C>T NCBI36
NG_007280.1:g.16095C>T , LRG_141:g.16095C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695724.1:c.*260C>T ENSP00000512122.1:n.*260C>T
ENST00000695725.1:c.*197C>T ENSP00000512123.1:n.*197C>T
ENST00000695726.1:n.2610C>T
ENST00000695729.1:n.3445C>T
ENST00000370629.7:c.642C>T MANE Select ENSP00000359663.2:p.Ser214=
ENST00000370628.2:c.579C>T ENSP00000359662.2:p.Ser193=
ENST00000370629.6:c.642C>T ENSP00000359663.2:p.Ser214=
NM_000074.2:c.642C>T , LRG_141t1:c.642C>T NP_000065.1:p.Ser214=
NM_000074.3:c.642C>T MANE Select NP_000065.1:p.Ser214=
Search 100 bp 5'
Search 100 bp 3'