Canonical Allele Identifier: CA518856055

Gene: CD40LG

Linked Data

• dbSNP Id: rs1266214240
• gnomAD v2: X-135741505-C-A
• gnomAD v4: X-136659346-C-A
• MyVariant Identifiers: chrX:g.135741505C>A (hg19) ; chrX:g.136659346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136659346C>A , CM000685.2:g.136659346C>A	GRCh38
NC_000023.10:g.135741505C>A , CM000685.1:g.135741505C>A	GRCh37
NC_000023.9:g.135569171C>A	NCBI36
NG_007280.1:g.16170C>A , LRG_141:g.16170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695724.1:c.*335C>A	ENSP00000512122.1:n.*335C>A
ENST00000695725.1:c.*272C>A	ENSP00000512123.1:n.*272C>A
ENST00000695726.1:n.2685C>A
ENST00000695729.1:n.3520C>A
ENST00000370629.7:c.717C>A MANE Select	ENSP00000359663.2:p.Val239=
ENST00000370628.2:c.654C>A	ENSP00000359662.2:p.Val218=
ENST00000370629.6:c.717C>A	ENSP00000359663.2:p.Val239=
NM_000074.2:c.717C>A , LRG_141t1:c.717C>A	NP_000065.1:p.Val239=
NM_000074.3:c.717C>A MANE Select	NP_000065.1:p.Val239=