Canonical Allele Identifier: CA10528156
Gene: CD40LG HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.136659171G>C
GRCh37 chrX:g.135741330G>C
Revel Score:
ENST00000370629 (MANE Select) 0.352
ENST00000370628 0.352
gnomAD v2:
X:135741330 G / C
gnomAD v3:
X:136659171 G / C
gnomAD v4:
chrX-136659171-G-C
Joint Max Group AF 0.00107291 (AFR)
Genomes Max Group AF 0.00103733 (AFR)
Exomes Max Group AF 0.00091447 (AFR)
ClinVar RCV:
RCV000506850
RCV000636651
ClinVar Variation:
439470
dbSNP:
11575982
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659171G>C , CM000685.2:g.136659171G>C GRCh38
NC_000023.10:g.135741330G>C , CM000685.1:g.135741330G>C GRCh37
NC_000023.9:g.135568996G>C NCBI36
NG_007280.1:g.15995G>C , LRG_141:g.15995G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*160G>C ENSP00000512122.1:n.*160G>C
ENST00000695725.1:c.*97G>C ENSP00000512123.1:n.*97G>C
ENST00000695726.1:n.2510G>C
ENST00000695729.1:n.3345G>C
ENST00000370629.7:c.542G>C MANE Select ENSP00000359663.2:p.Arg181Pro
ENST00000370628.2:c.479G>C ENSP00000359662.2:p.Arg160Pro
ENST00000370629.6:c.542G>C ENSP00000359663.2:p.Arg181Pro
NM_000074.2:c.542G>C , LRG_141t1:c.542G>C NP_000065.1:p.Arg181Pro
NM_000074.3:c.542G>C MANE Select NP_000065.1:p.Arg181Pro
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