Canonical Allele Identifier: CA414756387

Gene: CD40LG

Linked Data

• dbSNP Id: rs1299375470
• gnomAD v2: X-135741452-T-A
• gnomAD v3: X-136659293-T-A
• gnomAD v4: X-136659293-T-A
• MyVariant Identifiers: chrX:g.135741452T>A (hg19) ; chrX:g.136659293T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659293T>A , CM000685.2:g.136659293T>A	GRCh38
NC_000023.10:g.135741452T>A , CM000685.1:g.135741452T>A	GRCh37
NC_000023.9:g.135569118T>A	NCBI36
NG_007280.1:g.16117T>A , LRG_141:g.16117T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*282T>A	ENSP00000512122.1:n.*282T>A
ENST00000695725.1:c.*219T>A	ENSP00000512123.1:n.*219T>A
ENST00000695726.1:n.2632T>A
ENST00000695729.1:n.3467T>A
ENST00000370629.7:c.664T>A MANE Select	ENSP00000359663.2:p.Ser222Thr
ENST00000370628.2:c.601T>A	ENSP00000359662.2:p.Ser201Thr
ENST00000370629.6:c.664T>A	ENSP00000359663.2:p.Ser222Thr
NM_000074.2:c.664T>A , LRG_141t1:c.664T>A	NP_000065.1:p.Ser222Thr
NM_000074.3:c.664T>A MANE Select	NP_000065.1:p.Ser222Thr