Canonical Allele Identifier: CA10528170
Gene: CD40LG HGNC NCBI

Linked Data

ClinVar Variation Id: 1655255
ClinVar RCV Id: RCV002156680
dbSNP Id: rs368157256
ExAC: X:135741442 C / T
gnomAD v2: X-135741442-C-T
gnomAD v3: X-136659283-C-T
gnomAD v4: X-136659283-C-T
COSMIC: COSM3424503
MyVariant Identifiers: chrX:g.135741442C>T (hg19) chrX:g.136659283C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.136659283C>T , CM000685.2:g.136659283C>T GRCh38
NC_000023.10:g.135741442C>T , CM000685.1:g.135741442C>T GRCh37
NC_000023.9:g.135569108C>T NCBI36
NG_007280.1:g.16107C>T , LRG_141:g.16107C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695724.1:c.*272C>T ENSP00000512122.1:n.*272C>T
ENST00000695725.1:c.*209C>T ENSP00000512123.1:n.*209C>T
ENST00000695726.1:n.2622C>T
ENST00000695729.1:n.3457C>T
ENST00000370629.7:c.654C>T MANE Select ENSP00000359663.2:p.Cys218=
ENST00000370628.2:c.591C>T ENSP00000359662.2:p.Cys197=
ENST00000370629.6:c.654C>T ENSP00000359663.2:p.Cys218=
NM_000074.2:c.654C>T , LRG_141t1:c.654C>T NP_000065.1:p.Cys218=
NM_000074.3:c.654C>T MANE Select NP_000065.1:p.Cys218=
Search 100 bp 5'
Search 100 bp 3'