Canonical Allele Identifier: CA336267446

Gene: CD40LG

Linked Data

• dbSNP Id: rs987373941
• MyVariant Identifiers: chrX:g.135741423_135741424insC (hg19) ; chrX:g.136659264_136659265insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659265dup , CM000685.2:g.136659265dup	GRCh38
NC_000023.10:g.135741424dup , CM000685.1:g.135741424dup	GRCh37
NC_000023.9:g.135569090dup	NCBI36
NG_007280.1:g.16089dup , LRG_141:g.16089dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*254dup	ENSP00000512122.1:n.*254dup
ENST00000695725.1:c.*191dup	ENSP00000512123.1:n.*191dup
ENST00000695726.1:n.2604dup
ENST00000695729.1:n.3439dup
ENST00000370629.7:c.636dup MANE Select	ENSP00000359663.2:p.Ser213GlnfsTer18
ENST00000370628.2:c.573dup	ENSP00000359662.2:p.Ser192GlnfsTer18
ENST00000370629.6:c.636dup	ENSP00000359663.2:p.Ser213GlnfsTer18
NM_000074.2:c.636dup , LRG_141t1:c.636dup	NP_000065.1:p.Ser213GlnfsTer18
NM_000074.3:c.636dup MANE Select	NP_000065.1:p.Ser213GlnfsTer18