Canonical Allele Identifier: CA5212348

Gene: TLR4

Linked Data

• dbSNP Id: rs753209305
• ExAC: 9:120475575 G / C
• MyVariant Identifiers: chr9:g.120475575G>C (hg19) ; chr9:g.117713297G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713297G>C , CM000671.2:g.117713297G>C	GRCh38
NC_000009.11:g.120475575G>C , CM000671.1:g.120475575G>C	GRCh37
NC_000009.10:g.119515396G>C	NCBI36
NG_011475.1:g.14116G>C
NG_011475.2:g.13895G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8732G>C	ENSP00000496197.1:n.93+8732G>C
ENST00000697624.1:n.200+8732G>C
ENST00000697625.1:c.93+8732G>C	ENSP00000513362.1:n.93+8732G>C
ENST00000697636.1:c.93+8732G>C	ENSP00000513366.1:n.93+8732G>C
ENST00000697637.1:c.93+8732G>C	ENSP00000513367.1:n.93+8732G>C
ENST00000697664.1:c.140+4568G>C	ENSP00000513389.1:n.140+4568G>C
ENST00000697665.1:c.93+8732G>C	ENSP00000513390.1:n.93+8732G>C
ENST00000697666.1:c.140+4568G>C	ENSP00000513391.1:n.140+4568G>C
ENST00000355622.8:c.1169G>C MANE Select	ENSP00000363089.5:p.Cys390Ser
ENST00000394487.5:c.1049G>C	ENSP00000377997.4:p.Cys350Ser
ENST00000472304.2:c.*903G>C	ENSP00000496429.1:n.*903G>C
ENST00000642985.1:c.260+4568G>C	ENSP00000493686.1:n.260+4568G>C
ENST00000646089.1:c.93+8732G>C	ENSP00000496197.1:n.93+8732G>C
ENST00000665764.1:c.93+8732G>C	ENSP00000499745.1:n.93+8732G>C
ENST00000355622.6:c.1169G>C	ENSP00000363089.5:p.Cys390Ser
ENST00000394487.4:c.1049G>C	ENSP00000377997.4:p.Cys350Ser
ENST00000472304.1:n.1086G>C
NM_003266.3:c.1049G>C	NP_003257.1:p.Cys350Ser
NM_138554.4:c.1169G>C	NP_612564.1:p.Cys390Ser
NM_138557.2:c.569G>C	NP_612567.1:p.Cys190Ser
NM_138554.5:c.1169G>C MANE Select	NP_612564.1:p.Cys390Ser
NM_003266.4:c.1049G>C	NP_003257.1:p.Cys350Ser
NM_138557.3:c.569G>C	NP_612567.1:p.Cys190Ser