Canonical Allele Identifier: CA414753207
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 449464
ClinVar RCV Id: RCV000523806
dbSNP Id: rs1556136635

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136650325C>A , CM000685.2:g.136650325C>A GRCh38
NC_000023.10:g.135732484C>A , CM000685.1:g.135732484C>A GRCh37
NC_000023.9:g.135560150C>A NCBI36
NG_007280.1:g.7149C>A , LRG_141:g.7149C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.216C>A ENSP00000512122.1:p.Cys72Ter
ENST00000695725.1:c.156+1921C>A ENSP00000512123.1:n.156+1921C>A
ENST00000695726.1:n.259C>A
ENST00000695727.1:n.203C>A
ENST00000695728.1:n.203C>A
ENST00000370629.7:c.216C>A MANE Select ENSP00000359663.2:p.Cys72Ter
ENST00000370628.2:c.216C>A ENSP00000359662.2:p.Cys72Ter
ENST00000370629.6:c.216C>A ENSP00000359663.2:p.Cys72Ter
NM_000074.2:c.216C>A , LRG_141t1:c.216C>A NP_000065.1:p.Cys72Ter
NM_000074.3:c.216C>A MANE Select NP_000065.1:p.Cys72Ter