Canonical Allele Identifier: CA336267440

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 3011754
• ClinVar RCV Id: RCV003872817
• dbSNP Id: rs1050153013
• gnomAD v4: X-136659232-C-T
• MyVariant Identifiers: chrX:g.135741391C>T (hg19) ; chrX:g.136659232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659232C>T , CM000685.2:g.136659232C>T	GRCh38
NC_000023.10:g.135741391C>T , CM000685.1:g.135741391C>T	GRCh37
NC_000023.9:g.135569057C>T	NCBI36
NG_007280.1:g.16056C>T , LRG_141:g.16056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*221C>T	ENSP00000512122.1:n.*221C>T
ENST00000695725.1:c.*158C>T	ENSP00000512123.1:n.*158C>T
ENST00000695726.1:n.2571C>T
ENST00000695729.1:n.3406C>T
ENST00000370629.7:c.603C>T MANE Select	ENSP00000359663.2:p.Phe201=
ENST00000370628.2:c.540C>T	ENSP00000359662.2:p.Phe180=
ENST00000370629.6:c.603C>T	ENSP00000359663.2:p.Phe201=
NM_000074.2:c.603C>T , LRG_141t1:c.603C>T	NP_000065.1:p.Phe201=
NM_000074.3:c.603C>T MANE Select	NP_000065.1:p.Phe201=