Canonical Allele Identifier: CA10528164
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 744901
ClinVar RCV Id: RCV000921393
dbSNP Id: rs144827029
ExAC: X:135741389 T / C
gnomAD v2: X-135741389-T-C
gnomAD v3: X-136659230-T-C
gnomAD v4: X-136659230-T-C
MyVariant Identifiers: chrX:g.135741389T>C (hg19) chrX:g.136659230T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659230T>C , CM000685.2:g.136659230T>C GRCh38
NC_000023.10:g.135741389T>C , CM000685.1:g.135741389T>C GRCh37
NC_000023.9:g.135569055T>C NCBI36
NG_007280.1:g.16054T>C , LRG_141:g.16054T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*219T>C ENSP00000512122.1:n.*219T>C
ENST00000695725.1:c.*156T>C ENSP00000512123.1:n.*156T>C
ENST00000695726.1:n.2569T>C
ENST00000695729.1:n.3404T>C
ENST00000370629.7:c.601T>C MANE Select ENSP00000359663.2:p.Phe201Leu
ENST00000370628.2:c.538T>C ENSP00000359662.2:p.Phe180Leu
ENST00000370629.6:c.601T>C ENSP00000359663.2:p.Phe201Leu
NM_000074.2:c.601T>C , LRG_141t1:c.601T>C NP_000065.1:p.Phe201Leu
NM_000074.3:c.601T>C MANE Select NP_000065.1:p.Phe201Leu
Search 100 bp 5'
Search 100 bp 3'