Canonical Allele Identifier: CA10350231
Gene: TLR8 HGNC NCBI
TLR8-AS1 HGNC NCBI
COSMIC:
COSM150765 (not active)
MyVariant.info:
GRCh38 chrX:g.12919685C>T
GRCh37 chrX:g.12937804C>T
gnomAD v2:
X:12937804 C / T
gnomAD v3:
X:12919685 C / T
gnomAD v4:
chrX-12919685-C-T
Joint Max Group AF 0.79818328 (EAS)
Genomes Max Group AF 0.77456283 (EAS)
Exomes Max Group AF 0.79854875 (EAS)
ClinVar RCV:
RCV003488918
ClinVar Variation:
2688009
dbSNP:
5744080
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.12919685C>T , CM000685.2:g.12919685C>T GRCh38
NC_000023.10:g.12937804C>T , CM000685.1:g.12937804C>T GRCh37
NC_000023.9:g.12847725C>T NCBI36
NG_012882.2:g.18066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000218032.7:c.645C>T (TLR8) MANE Select ENSP00000218032.7:p.His215=
ENST00000218032.6:c.645C>T (TLR8) ENSP00000218032.6:p.His215=
ENST00000311912.5:c.699C>T (TLR8) ENSP00000312082.5:p.His233=
NM_016610.3:c.699C>T (TLR8) NP_057694.2:p.His233=
NM_138636.5:c.645C>T (TLR8) MANE Select NP_619542.1:p.His215=
NR_030727.1:n.241-11352G>A (TLR8-AS1)
XM_011545529.1:c.699C>T (TLR8) XP_011543831.1:p.His233=
XM_011545530.1:c.699C>T (TLR8) XP_011543832.1:p.His233=
XM_011545530.2:c.699C>T (TLR8) XP_011543832.1:p.His233=
NM_016610.4:c.699C>T (TLR8) NP_057694.2:p.His233=
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