Canonical Allele Identifier: CA414756688

Gene: CD40LG

Linked Data

• dbSNP Id: rs1189105308
• gnomAD v2: X-135741497-G-A
• gnomAD v4: X-136659338-G-A
• MyVariant Identifiers: chrX:g.135741497G>A (hg19) ; chrX:g.136659338G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659338G>A , CM000685.2:g.136659338G>A	GRCh38
NC_000023.10:g.135741497G>A , CM000685.1:g.135741497G>A	GRCh37
NC_000023.9:g.135569163G>A	NCBI36
NG_007280.1:g.16162G>A , LRG_141:g.16162G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*327G>A	ENSP00000512122.1:n.*327G>A
ENST00000695725.1:c.*264G>A	ENSP00000512123.1:n.*264G>A
ENST00000695726.1:n.2677G>A
ENST00000695729.1:n.3512G>A
ENST00000370629.7:c.709G>A MANE Select	ENSP00000359663.2:p.Val237Met
ENST00000370628.2:c.646G>A	ENSP00000359662.2:p.Val216Met
ENST00000370629.6:c.709G>A	ENSP00000359663.2:p.Val237Met
NM_000074.2:c.709G>A , LRG_141t1:c.709G>A	NP_000065.1:p.Val237Met
NM_000074.3:c.709G>A MANE Select	NP_000065.1:p.Val237Met