Canonical Allele Identifier: CA336267473

Gene: CD40LG

Linked Data

• dbSNP Id: rs371981283
• gnomAD v3: X-136659374-C-T
• gnomAD v4: X-136659374-C-T
• MyVariant Identifiers: chrX:g.135741533C>T (hg19) ; chrX:g.136659374C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659374C>T , CM000685.2:g.136659374C>T	GRCh38
NC_000023.10:g.135741533C>T , CM000685.1:g.135741533C>T	GRCh37
NC_000023.9:g.135569199C>T	NCBI36
NG_007280.1:g.16198C>T , LRG_141:g.16198C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*363C>T	ENSP00000512122.1:n.*363C>T
ENST00000695725.1:c.*300C>T	ENSP00000512123.1:n.*300C>T
ENST00000695726.1:n.2713C>T
ENST00000695729.1:n.3548C>T
ENST00000370629.7:c.745C>T MANE Select	ENSP00000359663.2:p.His249Tyr
ENST00000370628.2:c.682C>T	ENSP00000359662.2:p.His228Tyr
ENST00000370629.6:c.745C>T	ENSP00000359663.2:p.His249Tyr
NM_000074.2:c.745C>T , LRG_141t1:c.745C>T	NP_000065.1:p.His249Tyr
NM_000074.3:c.745C>T MANE Select	NP_000065.1:p.His249Tyr