Canonical Allele Identifier: CA74732266
Gene: TLR9 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.52222681C>A
GRCh37 chr3:g.52256697C>A
Revel Score:
ENST00000494383 0.018
gnomAD v2:
3:52256697 C / A
gnomAD v3:
3:52222681 C / A
gnomAD v4:
chr3-52222681-C-A
Joint Max Group AF 0.00001299 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001214 (NFE)
dbSNP:
352140
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000360658.3:c.1635G>T MANE Select ENSP00000353874.2:p.Pro545=
ENST00000360658.2:c.1635G>T ENSP00000353874.2:p.Pro545=
ENST00000494383.1:c.2095G>T
NM_017442.3:c.1635G>T NP_059138.1:p.Pro545=
NM_017442.4:c.1635G>T MANE Select NP_059138.1:p.Pro545=
Search 100 bp 5'
Search 100 bp 3'