Canonical Allele Identifier: CA374657075

Gene: TLR4

Linked Data

• gnomAD v4: 9-117713643-G-T
• COSMIC: COSM96338
• MyVariant Identifiers: chr9:g.120475921G>T (hg19) ; chr9:g.117713643G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713643G>T , CM000671.2:g.117713643G>T	GRCh38
NC_000009.11:g.120475921G>T , CM000671.1:g.120475921G>T	GRCh37
NC_000009.10:g.119515742G>T	NCBI36
NG_011475.1:g.14462G>T
NG_011475.2:g.14241G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9078G>T	ENSP00000496197.1:n.93+9078G>T
ENST00000697624.1:n.200+9078G>T
ENST00000697625.1:c.93+9078G>T	ENSP00000513362.1:n.93+9078G>T
ENST00000697636.1:c.93+9078G>T	ENSP00000513366.1:n.93+9078G>T
ENST00000697637.1:c.93+9078G>T	ENSP00000513367.1:n.93+9078G>T
ENST00000697664.1:c.140+4914G>T	ENSP00000513389.1:n.140+4914G>T
ENST00000697665.1:c.93+9078G>T	ENSP00000513390.1:n.93+9078G>T
ENST00000697666.1:c.140+4914G>T	ENSP00000513391.1:n.140+4914G>T
ENST00000355622.8:c.1515G>T MANE Select	ENSP00000363089.5:p.Gln505His
ENST00000394487.5:c.1395G>T	ENSP00000377997.4:p.Gln465His
ENST00000472304.2:c.*1249G>T	ENSP00000496429.1:n.*1249G>T
ENST00000642985.1:c.260+4914G>T	ENSP00000493686.1:n.260+4914G>T
ENST00000646089.1:c.93+9078G>T	ENSP00000496197.1:n.93+9078G>T
ENST00000665764.1:c.93+9078G>T	ENSP00000499745.1:n.93+9078G>T
ENST00000355622.6:c.1515G>T	ENSP00000363089.5:p.Gln505His
ENST00000394487.4:c.1395G>T	ENSP00000377997.4:p.Gln465His
ENST00000472304.1:n.1432G>T
NM_003266.3:c.1395G>T	NP_003257.1:p.Gln465His
NM_138554.4:c.1515G>T	NP_612564.1:p.Gln505His
NM_138557.2:c.915G>T	NP_612567.1:p.Gln305His
NM_138554.5:c.1515G>T MANE Select	NP_612564.1:p.Gln505His
NM_003266.4:c.1395G>T	NP_003257.1:p.Gln465His
NM_138557.3:c.915G>T	NP_612567.1:p.Gln305His