Canonical Allele Identifier: CA10528160
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 289207
ClinVar RCV Id: RCV000263063 RCV001513122
dbSNP Id: rs370353192
ExAC: X:135741382 C / T
gnomAD v2: X-135741382-C-T
gnomAD v3: X-136659223-C-T
gnomAD v4: X-136659223-C-T
MyVariant Identifiers: chrX:g.135741382C>T (hg19) chrX:g.136659223C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659223C>T , CM000685.2:g.136659223C>T GRCh38
NC_000023.10:g.135741382C>T , CM000685.1:g.135741382C>T GRCh37
NC_000023.9:g.135569048C>T NCBI36
NG_007280.1:g.16047C>T , LRG_141:g.16047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*212C>T ENSP00000512122.1:n.*212C>T
ENST00000695725.1:c.*149C>T ENSP00000512123.1:n.*149C>T
ENST00000695726.1:n.2562C>T
ENST00000695729.1:n.3397C>T
ENST00000370629.7:c.594C>T MANE Select ENSP00000359663.2:p.Pro198=
ENST00000370628.2:c.531C>T ENSP00000359662.2:p.Pro177=
ENST00000370629.6:c.594C>T ENSP00000359663.2:p.Pro198=
NM_000074.2:c.594C>T , LRG_141t1:c.594C>T NP_000065.1:p.Pro198=
NM_000074.3:c.594C>T MANE Select NP_000065.1:p.Pro198=
Search 100 bp 5'
Search 100 bp 3'