Canonical Allele Identifier: CA10528066
Gene: CD40LG HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.136648286C>T
GRCh37 chrX:g.135730445C>T
Revel Score:
ENST00000370629 (MANE Select) 0.125
ENST00000370628 0.125
gnomAD v2:
X:135730445 C / T
gnomAD v3:
X:136648286 C / T
gnomAD v4:
chrX-136648286-C-T
Joint Max Group AF 0.00015855 (NFE)
Genomes Max Group AF 0.00010196 (NFE)
Exomes Max Group AF 0.00015775 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136648286C>T , CM000685.2:g.136648286C>T GRCh38
NC_000023.10:g.135730445C>T , CM000685.1:g.135730445C>T GRCh37
NC_000023.9:g.135558111C>T NCBI36
NG_007280.1:g.5110C>T , LRG_141:g.5110C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.38C>T ENSP00000512122.1:p.Ala13Val
ENST00000695725.1:c.38C>T ENSP00000512123.1:p.Ala13Val
ENST00000695726.1:n.81C>T
ENST00000695727.1:n.25C>T
ENST00000695728.1:n.25C>T
ENST00000370629.7:c.38C>T MANE Select ENSP00000359663.2:p.Ala13Val
ENST00000370628.2:c.38C>T ENSP00000359662.2:p.Ala13Val
ENST00000370629.6:c.38C>T ENSP00000359663.2:p.Ala13Val
NM_000074.2:c.38C>T , LRG_141t1:c.38C>T NP_000065.1:p.Ala13Val
NM_000074.3:c.38C>T MANE Select NP_000065.1:p.Ala13Val
Search 100 bp 5'
Search 100 bp 3'