Canonical Allele Identifier: CA3161378
Gene: TLR3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186082920C>G
GRCh37 chr4:g.187004074C>G
Revel Score:
ENST00000296795 (MANE Select) 0.654
ENST00000513189 0.654
ENST00000542020 0.654
ENST00000504367 0.654
gnomAD v2:
4:187004074 C / G
gnomAD v3:
4:186082920 C / G
gnomAD v4:
chr4-186082920-C-G
Joint Max Group AF 0.00036361 (NFE)
Genomes Max Group AF 0.00010179 (NFE)
Exomes Max Group AF 0.00037511 (NFE)
ClinVar RCV:
RCV000813289
ClinVar Variation:
656784
dbSNP:
3775291
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186082920C>G , CM000666.2:g.186082920C>G GRCh38
NC_000004.11:g.187004074C>G , CM000666.1:g.187004074C>G GRCh37
NC_000004.10:g.187241068C>G NCBI36
NG_007278.1:g.18766C>G , LRG_117:g.18766C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000508051.2:c.403C>G ENSP00000513677.1:p.Leu135Val
ENST00000698351.1:c.864+370C>G ENSP00000513674.1:n.864+370C>G
ENST00000698352.1:c.*786C>G ENSP00000513675.1:n.*786C>G
ENST00000698353.1:n.1109C>G
ENST00000698354.1:c.403C>G ENSP00000513676.1:p.Leu135Val
ENST00000296795.8:c.1234C>G MANE Select ENSP00000296795.3:p.Leu412Val
ENST00000296795.7:c.1234C>G ENSP00000296795.2:p.Leu412Val
ENST00000504367.1:c.403C>G ENSP00000423684.1:p.Leu135Val
ENST00000512264.1:n.1310C>G
ENST00000513189.1:c.1042C>G ENSP00000423386.1:p.Leu348Val
NM_003265.2:c.1234C>G , LRG_117t1:c.1234C>G NP_003256.1:p.Leu412Val
NM_003265.3:c.1234C>G MANE Select NP_003256.1:p.Leu412Val
Search 100 bp 5'
Search 100 bp 3'