Canonical Allele Identifier: CA5212320

Gene: TLR4

Linked Data

• dbSNP Id: rs559949755
• ExAC: 9:120475423 C / T
• gnomAD v2: 9-120475423-C-T
• gnomAD v3: 9-117713145-C-T
• gnomAD v4: 9-117713145-C-T
• MyVariant Identifiers: chr9:g.120475423C>T (hg19) ; chr9:g.117713145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713145C>T , CM000671.2:g.117713145C>T	GRCh38
NC_000009.11:g.120475423C>T , CM000671.1:g.120475423C>T	GRCh37
NC_000009.10:g.119515244C>T	NCBI36
NG_011475.1:g.13964C>T
NG_011475.2:g.13743C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+8580C>T	ENSP00000496197.1:n.93+8580C>T
ENST00000697624.1:n.200+8580C>T
ENST00000697625.1:c.93+8580C>T	ENSP00000513362.1:n.93+8580C>T
ENST00000697636.1:c.93+8580C>T	ENSP00000513366.1:n.93+8580C>T
ENST00000697637.1:c.93+8580C>T	ENSP00000513367.1:n.93+8580C>T
ENST00000697664.1:c.140+4416C>T	ENSP00000513389.1:n.140+4416C>T
ENST00000697665.1:c.93+8580C>T	ENSP00000513390.1:n.93+8580C>T
ENST00000697666.1:c.140+4416C>T	ENSP00000513391.1:n.140+4416C>T
ENST00000355622.8:c.1017C>T MANE Select	ENSP00000363089.5:p.Asn339=
ENST00000394487.5:c.897C>T	ENSP00000377997.4:p.Asn299=
ENST00000472304.2:c.*751C>T	ENSP00000496429.1:n.*751C>T
ENST00000642985.1:c.260+4416C>T	ENSP00000493686.1:n.260+4416C>T
ENST00000646089.1:c.93+8580C>T	ENSP00000496197.1:n.93+8580C>T
ENST00000665764.1:c.93+8580C>T	ENSP00000499745.1:n.93+8580C>T
ENST00000355622.6:c.1017C>T	ENSP00000363089.5:p.Asn339=
ENST00000394487.4:c.897C>T	ENSP00000377997.4:p.Asn299=
ENST00000472304.1:n.934C>T
NM_003266.3:c.897C>T	NP_003257.1:p.Asn299=
NM_138554.4:c.1017C>T	NP_612564.1:p.Asn339=
NM_138557.2:c.417C>T	NP_612567.1:p.Asn139=
NM_138554.5:c.1017C>T MANE Select	NP_612564.1:p.Asn339=
NM_003266.4:c.897C>T	NP_003257.1:p.Asn299=
NM_138557.3:c.417C>T	NP_612567.1:p.Asn139=