Canonical Allele Identifier: CA10528175

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 1616009
• ClinVar RCV Id: RCV002083992
• dbSNP Id: rs146620753
• ExAC: X:135741496 G / A
• gnomAD v2: X-135741496-G-A
• gnomAD v3: X-136659337-G-A
• gnomAD v4: X-136659337-G-A
• COSMIC: COSM6050198
• MyVariant Identifiers: chrX:g.135741496G>A (hg19) ; chrX:g.136659337G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659337G>A , CM000685.2:g.136659337G>A	GRCh38
NC_000023.10:g.135741496G>A , CM000685.1:g.135741496G>A	GRCh37
NC_000023.9:g.135569162G>A	NCBI36
NG_007280.1:g.16161G>A , LRG_141:g.16161G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*326G>A	ENSP00000512122.1:n.*326G>A
ENST00000695725.1:c.*263G>A	ENSP00000512123.1:n.*263G>A
ENST00000695726.1:n.2676G>A
ENST00000695729.1:n.3511G>A
ENST00000370629.7:c.708G>A MANE Select	ENSP00000359663.2:p.Ser236=
ENST00000370628.2:c.645G>A	ENSP00000359662.2:p.Ser215=
ENST00000370629.6:c.708G>A	ENSP00000359663.2:p.Ser236=
NM_000074.2:c.708G>A , LRG_141t1:c.708G>A	NP_000065.1:p.Ser236=
NM_000074.3:c.708G>A MANE Select	NP_000065.1:p.Ser236=