Canonical Allele Identifier: CA518855971

Gene: CD40LG

Linked Data

• dbSNP Id: rs2076127372
• gnomAD v4: X-136659214-A-G
• MyVariant Identifiers: chrX:g.135741373A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659214A>G , CM000685.2:g.136659214A>G	GRCh38
NC_000023.10:g.135741373A>G , CM000685.1:g.135741373A>G	GRCh37
NC_000023.9:g.135569039A>G	NCBI36
NG_007280.1:g.16038A>G , LRG_141:g.16038A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*203A>G	ENSP00000512122.1:n.*203A>G
ENST00000695725.1:c.*140A>G	ENSP00000512123.1:n.*140A>G
ENST00000695726.1:n.2553A>G
ENST00000695729.1:n.3388A>G
ENST00000370629.7:c.585A>G MANE Select	ENSP00000359663.2:p.Leu195=
ENST00000370628.2:c.522A>G	ENSP00000359662.2:p.Leu174=
ENST00000370629.6:c.585A>G	ENSP00000359663.2:p.Leu195=
NM_000074.2:c.585A>G , LRG_141t1:c.585A>G	NP_000065.1:p.Leu195=
NM_000074.3:c.585A>G MANE Select	NP_000065.1:p.Leu195=