Canonical Allele Identifier: CA414756624

Gene: CD40LG

Linked Data

• gnomAD v4: X-136659325-A-C
• MyVariant Identifiers: chrX:g.135741484A>C (hg19) ; chrX:g.136659325A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659325A>C , CM000685.2:g.136659325A>C	GRCh38
NC_000023.10:g.135741484A>C , CM000685.1:g.135741484A>C	GRCh37
NC_000023.9:g.135569150A>C	NCBI36
NG_007280.1:g.16149A>C , LRG_141:g.16149A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695724.1:c.*314A>C	ENSP00000512122.1:n.*314A>C
ENST00000695725.1:c.*251A>C	ENSP00000512123.1:n.*251A>C
ENST00000695726.1:n.2664A>C
ENST00000695729.1:n.3499A>C
ENST00000370629.7:c.696A>C MANE Select	ENSP00000359663.2:p.Gln232His
ENST00000370628.2:c.633A>C	ENSP00000359662.2:p.Gln211His
ENST00000370629.6:c.696A>C	ENSP00000359663.2:p.Gln232His
NM_000074.2:c.696A>C , LRG_141t1:c.696A>C	NP_000065.1:p.Gln232His
NM_000074.3:c.696A>C MANE Select	NP_000065.1:p.Gln232His