Canonical Allele Identifier: CA336267475

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2439819
• ClinVar RCV Id: RCV003144719
• dbSNP Id: rs371247650
• gnomAD v4: X-136659391-G-C
• MyVariant Identifiers: chrX:g.135741550G>C (hg19) ; chrX:g.136659391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659391G>C , CM000685.2:g.136659391G>C	GRCh38
NC_000023.10:g.135741550G>C , CM000685.1:g.135741550G>C	GRCh37
NC_000023.9:g.135569216G>C	NCBI36
NG_007280.1:g.16215G>C , LRG_141:g.16215G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*380G>C	ENSP00000512122.1:n.*380G>C
ENST00000695725.1:c.*317G>C	ENSP00000512123.1:n.*317G>C
ENST00000695726.1:n.2730G>C
ENST00000695729.1:n.3565G>C
ENST00000370629.7:c.762G>C MANE Select	ENSP00000359663.2:p.Thr254=
ENST00000370628.2:c.699G>C	ENSP00000359662.2:p.Thr233=
ENST00000370629.6:c.762G>C	ENSP00000359663.2:p.Thr254=
NM_000074.2:c.762G>C , LRG_141t1:c.762G>C	NP_000065.1:p.Thr254=
NM_000074.3:c.762G>C MANE Select	NP_000065.1:p.Thr254=