Canonical Allele Identifier: CA118404

Gene: TLR4

Linked Data

• ClinVar Variation Id: 6660
• ClinVar RCV Id: RCV000007040 ; RCV001729340
• dbSNP Id: rs4986790
• ExAC: 9:120475302 A / G
• gnomAD: 9:120475302 A / G
• MyVariant Identifiers: chr9:g.120475302A>G (hg19) ; chr9:g.117713024A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713024A>G , CM000671.2:g.117713024A>G	GRCh38
NC_000009.11:g.120475302A>G , CM000671.1:g.120475302A>G	GRCh37
NC_000009.10:g.119515123A>G	NCBI36
NG_011475.1:g.13843A>G
NG_011475.2:g.13622A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000355622.8:c.896A>G MANE Select	ENSP00000363089.5:p.Asp299Gly
ENST00000394487.5:c.776A>G	ENSP00000377997.4:p.Asp259Gly
ENST00000472304.2:c.*630A>G	ENSP00000496429.1:p.=
ENST00000642985.1:c.260+4295A>G	ENSP00000493686.1:p.=
ENST00000646089.1:c.93+8459A>G	ENSP00000496197.1:p.=
ENST00000665764.1:c.93+8459A>G	ENSP00000499745.1:p.=
ENST00000355622.6:c.896A>G	ENSP00000363089.5:p.Asp299Gly
ENST00000394487.4:c.776A>G	ENSP00000377997.4:p.Asp259Gly
ENST00000472304.1:n.813A>G
NM_003266.3:c.776A>G	NP_003257.1:p.Asp259Gly
NM_138554.4:c.896A>G	NP_612564.1:p.Asp299Gly
NM_138557.2:c.296A>G	NP_612567.1:p.Asp99Gly
NM_138554.5:c.896A>G MANE Select	NP_612564.1:p.Asp299Gly
NM_003266.4:c.776A>G	NP_003257.1:p.Asp259Gly
NM_138557.3:c.296A>G	NP_612567.1:p.Asp99Gly