Canonical Allele Identifier: CA414756838

Gene: CD40LG

Linked Data

• gnomAD v4: X-136659354-C-T
• MyVariant Identifiers: chrX:g.135741513C>T (hg19) ; chrX:g.136659354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659354C>T , CM000685.2:g.136659354C>T	GRCh38
NC_000023.10:g.135741513C>T , CM000685.1:g.135741513C>T	GRCh37
NC_000023.9:g.135569179C>T	NCBI36
NG_007280.1:g.16178C>T , LRG_141:g.16178C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*343C>T	ENSP00000512122.1:n.*343C>T
ENST00000695725.1:c.*280C>T	ENSP00000512123.1:n.*280C>T
ENST00000695726.1:n.2693C>T
ENST00000695729.1:n.3528C>T
ENST00000370629.7:c.725C>T MANE Select	ENSP00000359663.2:p.Thr242Ile
ENST00000370628.2:c.662C>T	ENSP00000359662.2:p.Thr221Ile
ENST00000370629.6:c.725C>T	ENSP00000359663.2:p.Thr242Ile
NM_000074.2:c.725C>T , LRG_141t1:c.725C>T	NP_000065.1:p.Thr242Ile
NM_000074.3:c.725C>T MANE Select	NP_000065.1:p.Thr242Ile