Canonical Allele Identifier: CA414756582

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2764445
• ClinVar RCV Id: RCV003512586
• MyVariant Identifiers: chrX:g.135741480T>G (hg19) ; chrX:g.136659321T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659321T>G , CM000685.2:g.136659321T>G	GRCh38
NC_000023.10:g.135741480T>G , CM000685.1:g.135741480T>G	GRCh37
NC_000023.9:g.135569146T>G	NCBI36
NG_007280.1:g.16145T>G , LRG_141:g.16145T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*310T>G	ENSP00000512122.1:n.*310T>G
ENST00000695725.1:c.*247T>G	ENSP00000512123.1:n.*247T>G
ENST00000695726.1:n.2660T>G
ENST00000695729.1:n.3495T>G
ENST00000370629.7:c.692T>G MANE Select	ENSP00000359663.2:p.Leu231Trp
ENST00000370628.2:c.629T>G	ENSP00000359662.2:p.Leu210Trp
ENST00000370629.6:c.692T>G	ENSP00000359663.2:p.Leu231Trp
NM_000074.2:c.692T>G , LRG_141t1:c.692T>G	NP_000065.1:p.Leu231Trp
NM_000074.3:c.692T>G MANE Select	NP_000065.1:p.Leu231Trp