Canonical Allele Identifier: CA414756607

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 934686
• ClinVar RCV Id: RCV001203125
• dbSNP Id: rs2076127875
• MyVariant Identifiers: chrX:g.135741482C>T (hg19) ; chrX:g.136659323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659323C>T , CM000685.2:g.136659323C>T	GRCh38
NC_000023.10:g.135741482C>T , CM000685.1:g.135741482C>T	GRCh37
NC_000023.9:g.135569148C>T	NCBI36
NG_007280.1:g.16147C>T , LRG_141:g.16147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*312C>T	ENSP00000512122.1:n.*312C>T
ENST00000695725.1:c.*249C>T	ENSP00000512123.1:n.*249C>T
ENST00000695726.1:n.2662C>T
ENST00000695729.1:n.3497C>T
ENST00000370629.7:c.694C>T MANE Select	ENSP00000359663.2:p.Gln232Ter
ENST00000370628.2:c.631C>T	ENSP00000359662.2:p.Gln211Ter
ENST00000370629.6:c.694C>T	ENSP00000359663.2:p.Gln232Ter
NM_000074.2:c.694C>T , LRG_141t1:c.694C>T	NP_000065.1:p.Gln232Ter
NM_000074.3:c.694C>T MANE Select	NP_000065.1:p.Gln232Ter