Canonical Allele Identifier: CA10528172

Gene: CD40LG

Linked Data

• ClinVar Variation Id: 461469
• ClinVar RCV Id: RCV000547346 ; RCV000781203 ; RCV003960288
• dbSNP Id: rs11575983
• ExAC: X:135741472 A / G
• gnomAD v2: X-135741472-A-G
• gnomAD v3: X-136659313-A-G
• gnomAD v4: X-136659313-A-G
• MyVariant Identifiers: chrX:g.135741472A>G (hg19) ; chrX:g.136659313A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659313A>G , CM000685.2:g.136659313A>G	GRCh38
NC_000023.10:g.135741472A>G , CM000685.1:g.135741472A>G	GRCh37
NC_000023.9:g.135569138A>G	NCBI36
NG_007280.1:g.16137A>G , LRG_141:g.16137A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*302A>G	ENSP00000512122.1:n.*302A>G
ENST00000695725.1:c.*239A>G	ENSP00000512123.1:n.*239A>G
ENST00000695726.1:n.2652A>G
ENST00000695729.1:n.3487A>G
ENST00000370629.7:c.684A>G MANE Select	ENSP00000359663.2:p.Val228=
ENST00000370628.2:c.621A>G	ENSP00000359662.2:p.Val207=
ENST00000370629.6:c.684A>G	ENSP00000359663.2:p.Val228=
NM_000074.2:c.684A>G , LRG_141t1:c.684A>G	NP_000065.1:p.Val228=
NM_000074.3:c.684A>G MANE Select	NP_000065.1:p.Val228=