Canonical Allele Identifier: CA10349891
Gene: TLR7 HGNC NCBI
COSMIC:
COSM1465493 (not active)
MyVariant.info:
GRCh38 chrX:g.12885540A>T
GRCh37 chrX:g.12903659A>T
Revel Score:
ENST00000380659 (MANE Select) 0.036
gnomAD v2:
X:12903659 A / T
gnomAD v3:
X:12885540 A / T
gnomAD v4:
chrX-12885540-A-T
Joint Max Group AF 0.21311132 (NFE)
Genomes Max Group AF 0.21194558 (NFE)
Exomes Max Group AF 0.21300249 (NFE)
ClinVar RCV:
RCV002846219
RCV003491156
ClinVar Variation:
2015182
dbSNP:
179008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.12885540A>T , CM000685.2:g.12885540A>T GRCh38
NC_000023.10:g.12903659A>T , CM000685.1:g.12903659A>T GRCh37
NC_000023.9:g.12813580A>T NCBI36
NG_012569.1:g.23458A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380659.4:c.32A>T MANE Select ENSP00000370034.3:p.Gln11Leu
ENST00000380659.3:c.32A>T ENSP00000370034.3:p.Gln11Leu
NM_016562.3:c.32A>T NP_057646.1:p.Gln11Leu
NM_016562.4:c.32A>T MANE Select NP_057646.1:p.Gln11Leu
Search 100 bp 5'
Search 100 bp 3'