Canonical Allele Identifier: CA467037277

Gene: TLR4

Linked Data

• dbSNP Id: rs2131171267
• gnomAD v4: 9-117713268-C-T
• COSMIC: COSM5724882
• MyVariant Identifiers: chr9:g.120475546C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713268C>T , CM000671.2:g.117713268C>T	GRCh38
NC_000009.11:g.120475546C>T , CM000671.1:g.120475546C>T	GRCh37
NC_000009.10:g.119515367C>T	NCBI36
NG_011475.1:g.14087C>T
NG_011475.2:g.13866C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8703C>T	ENSP00000496197.1:n.93+8703C>T
ENST00000697624.1:n.200+8703C>T
ENST00000697625.1:c.93+8703C>T	ENSP00000513362.1:n.93+8703C>T
ENST00000697636.1:c.93+8703C>T	ENSP00000513366.1:n.93+8703C>T
ENST00000697637.1:c.93+8703C>T	ENSP00000513367.1:n.93+8703C>T
ENST00000697664.1:c.140+4539C>T	ENSP00000513389.1:n.140+4539C>T
ENST00000697665.1:c.93+8703C>T	ENSP00000513390.1:n.93+8703C>T
ENST00000697666.1:c.140+4539C>T	ENSP00000513391.1:n.140+4539C>T
ENST00000355622.8:c.1140C>T MANE Select	ENSP00000363089.5:p.Leu380=
ENST00000394487.5:c.1020C>T	ENSP00000377997.4:p.Leu340=
ENST00000472304.2:c.*874C>T	ENSP00000496429.1:n.*874C>T
ENST00000642985.1:c.260+4539C>T	ENSP00000493686.1:n.260+4539C>T
ENST00000646089.1:c.93+8703C>T	ENSP00000496197.1:n.93+8703C>T
ENST00000665764.1:c.93+8703C>T	ENSP00000499745.1:n.93+8703C>T
ENST00000355622.6:c.1140C>T	ENSP00000363089.5:p.Leu380=
ENST00000394487.4:c.1020C>T	ENSP00000377997.4:p.Leu340=
ENST00000472304.1:n.1057C>T
NM_003266.3:c.1020C>T	NP_003257.1:p.Leu340=
NM_138554.4:c.1140C>T	NP_612564.1:p.Leu380=
NM_138557.2:c.540C>T	NP_612567.1:p.Leu180=
NM_138554.5:c.1140C>T MANE Select	NP_612564.1:p.Leu380=
NM_003266.4:c.1020C>T	NP_003257.1:p.Leu340=
NM_138557.3:c.540C>T	NP_612567.1:p.Leu180=