Canonical Allele Identifier: CA10528176
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 1635375
ClinVar RCV Id: RCV002133395
dbSNP Id: rs764969326
ExAC: X:135741529 G / C
gnomAD v2: X-135741529-G-C
gnomAD v3: X-136659370-G-C
gnomAD v4: X-136659370-G-C
MyVariant Identifiers: chrX:g.135741529G>C (hg19) chrX:g.136659370G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659370G>C , CM000685.2:g.136659370G>C GRCh38
NC_000023.10:g.135741529G>C , CM000685.1:g.135741529G>C GRCh37
NC_000023.9:g.135569195G>C NCBI36
NG_007280.1:g.16194G>C , LRG_141:g.16194G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*359G>C ENSP00000512122.1:n.*359G>C
ENST00000695725.1:c.*296G>C ENSP00000512123.1:n.*296G>C
ENST00000695726.1:n.2709G>C
ENST00000695729.1:n.3544G>C
ENST00000370629.7:c.741G>C MANE Select ENSP00000359663.2:p.Val247=
ENST00000370628.2:c.678G>C ENSP00000359662.2:p.Val226=
ENST00000370629.6:c.741G>C ENSP00000359663.2:p.Val247=
NM_000074.2:c.741G>C , LRG_141t1:c.741G>C NP_000065.1:p.Val247=
NM_000074.3:c.741G>C MANE Select NP_000065.1:p.Val247=
Search 100 bp 5'
Search 100 bp 3'