Canonical Allele Identifier: CA518855981

Gene: CD40LG

Linked Data

• dbSNP Id: rs1420482244
• gnomAD v2: X-135741385-T-A
• gnomAD v4: X-136659226-T-A
• MyVariant Identifiers: chrX:g.135741385T>A (hg19) ; chrX:g.136659226T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659226T>A , CM000685.2:g.136659226T>A	GRCh38
NC_000023.10:g.135741385T>A , CM000685.1:g.135741385T>A	GRCh37
NC_000023.9:g.135569051T>A	NCBI36
NG_007280.1:g.16050T>A , LRG_141:g.16050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*215T>A	ENSP00000512122.1:n.*215T>A
ENST00000695725.1:c.*152T>A	ENSP00000512123.1:n.*152T>A
ENST00000695726.1:n.2565T>A
ENST00000695729.1:n.3400T>A
ENST00000370629.7:c.597T>A MANE Select	ENSP00000359663.2:p.Gly199=
ENST00000370628.2:c.534T>A	ENSP00000359662.2:p.Gly178=
ENST00000370629.6:c.597T>A	ENSP00000359663.2:p.Gly199=
NM_000074.2:c.597T>A , LRG_141t1:c.597T>A	NP_000065.1:p.Gly199=
NM_000074.3:c.597T>A MANE Select	NP_000065.1:p.Gly199=