Canonical Allele Identifier: CA2430614
Gene: TLR9 HGNC NCBI
COSMIC:
COSM4158193 (not active)
MyVariant.info:
GRCh38 chr3:g.52222681C>T
GRCh37 chr3:g.52256697C>T
Revel Score:
ENST00000494383 0.019
gnomAD v2:
3:52256697 C / T
gnomAD v3:
3:52222681 C / T
gnomAD v4:
chr3-52222681-C-T
Joint Max Group AF 0.53464913 (NFE)
Genomes Max Group AF 0.53416753 (NFE)
Exomes Max Group AF 0.53443091 (NFE)
dbSNP:
352140
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52222681C>T , CM000665.2:g.52222681C>T GRCh38
NC_000003.11:g.52256697C>T , CM000665.1:g.52256697C>T GRCh37
NC_000003.10:g.52231737C>T NCBI36
NG_033933.1:g.8483G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360658.3:c.1635G>A MANE Select ENSP00000353874.2:p.Pro545=
ENST00000360658.2:c.1635G>A ENSP00000353874.2:p.Pro545=
ENST00000494383.1:c.2095G>A
NM_017442.3:c.1635G>A NP_059138.1:p.Pro545=
NM_017442.4:c.1635G>A MANE Select NP_059138.1:p.Pro545=
Search 100 bp 5'
Search 100 bp 3'