Canonical Allele Identifier: CA118408
Gene: TLR3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.186083346C>T
GRCh37 chr4:g.187004500C>T
Revel Score:
ENST00000296795 (MANE Select) 0.583
ENST00000542020 0.583
ENST00000504367 0.583
gnomAD v2:
4:187004500 C / T
gnomAD v3:
4:186083346 C / T
gnomAD v4:
chr4-186083346-C-T
Joint Max Group AF 0.00058538 (NFE)
Genomes Max Group AF 0.00072881 (NFE)
Exomes Max Group AF 0.00056727 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.186083346C>T , CM000666.2:g.186083346C>T GRCh38
NC_000004.11:g.187004500C>T , CM000666.1:g.187004500C>T GRCh37
NC_000004.10:g.187241494C>T NCBI36
NG_007278.1:g.19192C>T , LRG_117:g.19192C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000508051.2:c.829C>T ENSP00000513677.1:p.Pro277Ser
ENST00000698351.1:c.864+796C>T ENSP00000513674.1:n.864+796C>T
ENST00000698352.1:c.*1212C>T ENSP00000513675.1:n.*1212C>T
ENST00000698353.1:n.1535C>T
ENST00000698354.1:c.829C>T ENSP00000513676.1:p.Pro277Ser
ENST00000296795.8:c.1660C>T MANE Select ENSP00000296795.3:p.Pro554Ser
ENST00000296795.7:c.1660C>T ENSP00000296795.2:p.Pro554Ser
ENST00000504367.1:c.829C>T ENSP00000423684.1:p.Pro277Ser
ENST00000512264.1:n.1736C>T
NM_003265.2:c.1660C>T , LRG_117t1:c.1660C>T NP_003256.1:p.Pro554Ser
NM_003265.3:c.1660C>T MANE Select NP_003256.1:p.Pro554Ser
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