Canonical Allele Identifier: CA467037571

Gene: TLR4

Linked Data

• dbSNP Id: rs1829287443
• gnomAD v3: 9-117713772-T-G
• gnomAD v4: 9-117713772-T-G
• MyVariant Identifiers: chr9:g.120476050T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713772T>G , CM000671.2:g.117713772T>G	GRCh38
NC_000009.11:g.120476050T>G , CM000671.1:g.120476050T>G	GRCh37
NC_000009.10:g.119515871T>G	NCBI36
NG_011475.1:g.14591T>G
NG_011475.2:g.14370T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9207T>G	ENSP00000496197.1:n.93+9207T>G
ENST00000697624.1:n.200+9207T>G
ENST00000697625.1:c.93+9207T>G	ENSP00000513362.1:n.93+9207T>G
ENST00000697636.1:c.93+9207T>G	ENSP00000513366.1:n.93+9207T>G
ENST00000697637.1:c.93+9207T>G	ENSP00000513367.1:n.93+9207T>G
ENST00000697664.1:c.140+5043T>G	ENSP00000513389.1:n.140+5043T>G
ENST00000697665.1:c.93+9207T>G	ENSP00000513390.1:n.93+9207T>G
ENST00000697666.1:c.140+5043T>G	ENSP00000513391.1:n.140+5043T>G
ENST00000355622.8:c.1644T>G MANE Select	ENSP00000363089.5:p.Val548=
ENST00000394487.5:c.1524T>G	ENSP00000377997.4:p.Val508=
ENST00000472304.2:c.*1378T>G	ENSP00000496429.1:n.*1378T>G
ENST00000642985.1:c.260+5043T>G	ENSP00000493686.1:n.260+5043T>G
ENST00000646089.1:c.93+9207T>G	ENSP00000496197.1:n.93+9207T>G
ENST00000665764.1:c.93+9207T>G	ENSP00000499745.1:n.93+9207T>G
ENST00000355622.6:c.1644T>G	ENSP00000363089.5:p.Val548=
ENST00000394487.4:c.1524T>G	ENSP00000377997.4:p.Val508=
ENST00000472304.1:n.1561T>G
NM_003266.3:c.1524T>G	NP_003257.1:p.Val508=
NM_138554.4:c.1644T>G	NP_612564.1:p.Val548=
NM_138557.2:c.1044T>G	NP_612567.1:p.Val348=
NM_138554.5:c.1644T>G MANE Select	NP_612564.1:p.Val548=
NM_003266.4:c.1524T>G	NP_003257.1:p.Val508=
NM_138557.3:c.1044T>G	NP_612567.1:p.Val348=