Canonical Allele Identifier: CA5212347

Gene: TLR4

Linked Data

• dbSNP Id: rs201746544
• ExAC: 9:120475571 G / T
• gnomAD v2: 9-120475571-G-T
• gnomAD v4: 9-117713293-G-T
• MyVariant Identifiers: chr9:g.120475571G>T (hg19) ; chr9:g.117713293G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713293G>T , CM000671.2:g.117713293G>T	GRCh38
NC_000009.11:g.120475571G>T , CM000671.1:g.120475571G>T	GRCh37
NC_000009.10:g.119515392G>T	NCBI36
NG_011475.1:g.14112G>T
NG_011475.2:g.13891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8728G>T	ENSP00000496197.1:n.93+8728G>T
ENST00000697624.1:n.200+8728G>T
ENST00000697625.1:c.93+8728G>T	ENSP00000513362.1:n.93+8728G>T
ENST00000697636.1:c.93+8728G>T	ENSP00000513366.1:n.93+8728G>T
ENST00000697637.1:c.93+8728G>T	ENSP00000513367.1:n.93+8728G>T
ENST00000697664.1:c.140+4564G>T	ENSP00000513389.1:n.140+4564G>T
ENST00000697665.1:c.93+8728G>T	ENSP00000513390.1:n.93+8728G>T
ENST00000697666.1:c.140+4564G>T	ENSP00000513391.1:n.140+4564G>T
ENST00000355622.8:c.1165G>T MANE Select	ENSP00000363089.5:p.Gly389Cys
ENST00000394487.5:c.1045G>T	ENSP00000377997.4:p.Gly349Cys
ENST00000472304.2:c.*899G>T	ENSP00000496429.1:n.*899G>T
ENST00000642985.1:c.260+4564G>T	ENSP00000493686.1:n.260+4564G>T
ENST00000646089.1:c.93+8728G>T	ENSP00000496197.1:n.93+8728G>T
ENST00000665764.1:c.93+8728G>T	ENSP00000499745.1:n.93+8728G>T
ENST00000355622.6:c.1165G>T	ENSP00000363089.5:p.Gly389Cys
ENST00000394487.4:c.1045G>T	ENSP00000377997.4:p.Gly349Cys
ENST00000472304.1:n.1082G>T
NM_003266.3:c.1045G>T	NP_003257.1:p.Gly349Cys
NM_138554.4:c.1165G>T	NP_612564.1:p.Gly389Cys
NM_138557.2:c.565G>T	NP_612567.1:p.Gly189Cys
NM_138554.5:c.1165G>T MANE Select	NP_612564.1:p.Gly389Cys
NM_003266.4:c.1045G>T	NP_003257.1:p.Gly349Cys
NM_138557.3:c.565G>T	NP_612567.1:p.Gly189Cys