Canonical Allele Identifier: CA414756012
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 1413373
ClinVar RCV Id: RCV001925891
dbSNP Id: rs2148553738

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659227A>T , CM000685.2:g.136659227A>T GRCh38
NC_000023.10:g.135741386A>T , CM000685.1:g.135741386A>T GRCh37
NC_000023.9:g.135569052A>T NCBI36
NG_007280.1:g.16051A>T , LRG_141:g.16051A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*216A>T ENSP00000512122.1:n.*216A>T
ENST00000695725.1:c.*153A>T ENSP00000512123.1:n.*153A>T
ENST00000695726.1:n.2566A>T
ENST00000695729.1:n.3401A>T
ENST00000370629.7:c.598A>T MANE Select ENSP00000359663.2:p.Arg200Ter
ENST00000370628.2:c.535A>T ENSP00000359662.2:p.Arg179Ter
ENST00000370629.6:c.598A>T ENSP00000359663.2:p.Arg200Ter
NM_000074.2:c.598A>T , LRG_141t1:c.598A>T NP_000065.1:p.Arg200Ter
NM_000074.3:c.598A>T MANE Select NP_000065.1:p.Arg200Ter