Canonical Allele Identifier: CA414755845

Gene: CD40LG

Linked Data

• gnomAD v3: X-136659171-G-T
• gnomAD v4: X-136659171-G-T
• COSMIC: COSM6117601
• MyVariant Identifiers: chrX:g.135741330G>T (hg19) ; chrX:g.136659171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659171G>T , CM000685.2:g.136659171G>T	GRCh38
NC_000023.10:g.135741330G>T , CM000685.1:g.135741330G>T	GRCh37
NC_000023.9:g.135568996G>T	NCBI36
NG_007280.1:g.15995G>T , LRG_141:g.15995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*160G>T	ENSP00000512122.1:n.*160G>T
ENST00000695725.1:c.*97G>T	ENSP00000512123.1:n.*97G>T
ENST00000695726.1:n.2510G>T
ENST00000695729.1:n.3345G>T
ENST00000370629.7:c.542G>T MANE Select	ENSP00000359663.2:p.Arg181Leu
ENST00000370628.2:c.479G>T	ENSP00000359662.2:p.Arg160Leu
ENST00000370629.6:c.542G>T	ENSP00000359663.2:p.Arg181Leu
NM_000074.2:c.542G>T , LRG_141t1:c.542G>T	NP_000065.1:p.Arg181Leu
NM_000074.3:c.542G>T MANE Select	NP_000065.1:p.Arg181Leu