Canonical Allele Identifier: CA414755782

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 2768403
• ClinVar RCV Id: RCV003512683
• MyVariant Identifiers: chrX:g.135741302T>G (hg19) ; chrX:g.136659143T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659143T>G , CM000685.2:g.136659143T>G	GRCh38
NC_000023.10:g.135741302T>G , CM000685.1:g.135741302T>G	GRCh37
NC_000023.9:g.135568968T>G	NCBI36
NG_007280.1:g.15967T>G , LRG_141:g.15967T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*132T>G	ENSP00000512122.1:n.*132T>G
ENST00000695725.1:c.*69T>G	ENSP00000512123.1:n.*69T>G
ENST00000695726.1:n.2482T>G
ENST00000695729.1:n.3317T>G
ENST00000370629.7:c.514T>G MANE Select	ENSP00000359663.2:p.Tyr172Asp
ENST00000370628.2:c.451T>G	ENSP00000359662.2:p.Tyr151Asp
ENST00000370629.6:c.514T>G	ENSP00000359663.2:p.Tyr172Asp
NM_000074.2:c.514T>G , LRG_141t1:c.514T>G	NP_000065.1:p.Tyr172Asp
NM_000074.3:c.514T>G MANE Select	NP_000065.1:p.Tyr172Asp