Canonical Allele Identifier: CA260206
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 35813
ClinVar RCV Id: RCV000029465 RCV000358482
dbSNP Id: rs148594123
ExAC: X:135741443 G / A
gnomAD v2: X-135741443-G-A
gnomAD v3: X-136659284-G-A
gnomAD v4: X-136659284-G-A
MyVariant Identifiers: chrX:g.135741443G>A (hg19) chrX:g.136659284G>A (hg38)
PubMed: PMID:10651941 PMID:19575287 PMID:20652909 PMID:21543760 PMID:22750225 PMID:23622016
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659284G>A , CM000685.2:g.136659284G>A GRCh38
NC_000023.10:g.135741443G>A , CM000685.1:g.135741443G>A GRCh37
NC_000023.9:g.135569109G>A NCBI36
NG_007280.1:g.16108G>A , LRG_141:g.16108G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*273G>A ENSP00000512122.1:n.*273G>A
ENST00000695725.1:c.*210G>A ENSP00000512123.1:n.*210G>A
ENST00000695726.1:n.2623G>A
ENST00000695729.1:n.3458G>A
ENST00000370629.7:c.655G>A MANE Select ENSP00000359663.2:p.Gly219Arg
ENST00000370628.2:c.592G>A ENSP00000359662.2:p.Gly198Arg
ENST00000370629.6:c.655G>A ENSP00000359663.2:p.Gly219Arg
NM_000074.2:c.655G>A , LRG_141t1:c.655G>A NP_000065.1:p.Gly219Arg
NM_000074.3:c.655G>A MANE Select NP_000065.1:p.Gly219Arg
Search 100 bp 5'
Search 100 bp 3'