Canonical Allele Identifier: CA5212329

Gene: TLR4

Linked Data

• ClinVar Variation Id: 779432
• ClinVar RCV Id: RCV000960266
• dbSNP Id: rs56070048
• ExAC: 9:120475468 A / G
• gnomAD v2: 9-120475468-A-G
• gnomAD v3: 9-117713190-A-G
• gnomAD v4: 9-117713190-A-G
• MyVariant Identifiers: chr9:g.120475468A>G (hg19) ; chr9:g.117713190A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713190A>G , CM000671.2:g.117713190A>G	GRCh38
NC_000009.11:g.120475468A>G , CM000671.1:g.120475468A>G	GRCh37
NC_000009.10:g.119515289A>G	NCBI36
NG_011475.1:g.14009A>G
NG_011475.2:g.13788A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8625A>G	ENSP00000496197.1:n.93+8625A>G
ENST00000697624.1:n.200+8625A>G
ENST00000697625.1:c.93+8625A>G	ENSP00000513362.1:n.93+8625A>G
ENST00000697636.1:c.93+8625A>G	ENSP00000513366.1:n.93+8625A>G
ENST00000697637.1:c.93+8625A>G	ENSP00000513367.1:n.93+8625A>G
ENST00000697664.1:c.140+4461A>G	ENSP00000513389.1:n.140+4461A>G
ENST00000697665.1:c.93+8625A>G	ENSP00000513390.1:n.93+8625A>G
ENST00000697666.1:c.140+4461A>G	ENSP00000513391.1:n.140+4461A>G
ENST00000355622.8:c.1062A>G MANE Select	ENSP00000363089.5:p.Lys354=
ENST00000394487.5:c.942A>G	ENSP00000377997.4:p.Lys314=
ENST00000472304.2:c.*796A>G	ENSP00000496429.1:n.*796A>G
ENST00000642985.1:c.260+4461A>G	ENSP00000493686.1:n.260+4461A>G
ENST00000646089.1:c.93+8625A>G	ENSP00000496197.1:n.93+8625A>G
ENST00000665764.1:c.93+8625A>G	ENSP00000499745.1:n.93+8625A>G
ENST00000355622.6:c.1062A>G	ENSP00000363089.5:p.Lys354=
ENST00000394487.4:c.942A>G	ENSP00000377997.4:p.Lys314=
ENST00000472304.1:n.979A>G
NM_003266.3:c.942A>G	NP_003257.1:p.Lys314=
NM_138554.4:c.1062A>G	NP_612564.1:p.Lys354=
NM_138557.2:c.462A>G	NP_612567.1:p.Lys154=
NM_138554.5:c.1062A>G MANE Select	NP_612564.1:p.Lys354=
NM_003266.4:c.942A>G	NP_003257.1:p.Lys314=
NM_138557.3:c.462A>G	NP_612567.1:p.Lys154=