Canonical Allele Identifier: CA518856073
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 2918241
ClinVar RCV Id: RCV003622372
dbSNP Id: rs1421450112
gnomAD v2: X-135741535-T-C
gnomAD v3: X-136659376-T-C
gnomAD v4: X-136659376-T-C
MyVariant Identifiers: chrX:g.135741535T>C (hg19) chrX:g.136659376T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659376T>C , CM000685.2:g.136659376T>C GRCh38
NC_000023.10:g.135741535T>C , CM000685.1:g.135741535T>C GRCh37
NC_000023.9:g.135569201T>C NCBI36
NG_007280.1:g.16200T>C , LRG_141:g.16200T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000695724.1:c.*365T>C ENSP00000512122.1:n.*365T>C
ENST00000695725.1:c.*302T>C ENSP00000512123.1:n.*302T>C
ENST00000695726.1:n.2715T>C
ENST00000695729.1:n.3550T>C
ENST00000370629.7:c.747T>C MANE Select ENSP00000359663.2:p.His249=
ENST00000370628.2:c.684T>C ENSP00000359662.2:p.His228=
ENST00000370629.6:c.747T>C ENSP00000359663.2:p.His249=
NM_000074.2:c.747T>C , LRG_141t1:c.747T>C NP_000065.1:p.His249=
NM_000074.3:c.747T>C MANE Select NP_000065.1:p.His249=
Search 100 bp 5'
Search 100 bp 3'