Canonical Allele Identifier: CA10528071
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 518406
ClinVar RCV Id: RCV000615122 RCV001702692 RCV001712717
dbSNP Id: rs1126535
ExAC: X:135730555 T / C
gnomAD v2: X-135730555-T-C
gnomAD v3: X-136648396-T-C
gnomAD v4: X-136648396-T-C
MyVariant Identifiers: chrX:g.135730555T>C (hg19) chrX:g.136648396T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136648396T>C , CM000685.2:g.136648396T>C GRCh38
NC_000023.10:g.135730555T>C , CM000685.1:g.135730555T>C GRCh37
NC_000023.9:g.135558221T>C NCBI36
NG_007280.1:g.5220T>C , LRG_141:g.5220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.148T>C ENSP00000512122.1:p.Leu50=
ENST00000695725.1:c.148T>C ENSP00000512123.1:p.Leu50=
ENST00000695726.1:n.191T>C
ENST00000695727.1:n.135T>C
ENST00000695728.1:n.135T>C
ENST00000370629.7:c.148T>C MANE Select ENSP00000359663.2:p.Leu50=
ENST00000370628.2:c.148T>C ENSP00000359662.2:p.Leu50=
ENST00000370629.6:c.148T>C ENSP00000359663.2:p.Leu50=
NM_000074.2:c.148T>C , LRG_141t1:c.148T>C NP_000065.1:p.Leu50=
NM_000074.3:c.148T>C MANE Select NP_000065.1:p.Leu50=
Search 100 bp 5'
Search 100 bp 3'