Canonical Allele Identifier: CA414756532

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2431549
• ClinVar RCV Id: RCV003140603
• MyVariant Identifiers: chrX:g.135741475T>A (hg19) ; chrX:g.136659316T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659316T>A , CM000685.2:g.136659316T>A	GRCh38
NC_000023.10:g.135741475T>A , CM000685.1:g.135741475T>A	GRCh37
NC_000023.9:g.135569141T>A	NCBI36
NG_007280.1:g.16140T>A , LRG_141:g.16140T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*305T>A	ENSP00000512122.1:n.*305T>A
ENST00000695725.1:c.*242T>A	ENSP00000512123.1:n.*242T>A
ENST00000695726.1:n.2655T>A
ENST00000695729.1:n.3490T>A
ENST00000370629.7:c.687T>A MANE Select	ENSP00000359663.2:p.Phe229Leu
ENST00000370628.2:c.624T>A	ENSP00000359662.2:p.Phe208Leu
ENST00000370629.6:c.687T>A	ENSP00000359663.2:p.Phe229Leu
NM_000074.2:c.687T>A , LRG_141t1:c.687T>A	NP_000065.1:p.Phe229Leu
NM_000074.3:c.687T>A MANE Select	NP_000065.1:p.Phe229Leu