Canonical Allele Identifier: CA374657441
Gene: TLR4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2474294
ClinVar RCV Id: RCV004266619

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713804C>T , CM000671.2:g.117713804C>T GRCh38
NC_000009.11:g.120476082C>T , CM000671.1:g.120476082C>T GRCh37
NC_000009.10:g.119515903C>T NCBI36
NG_011475.1:g.14623C>T
NG_011475.2:g.14402C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+9239C>T ENSP00000496197.1:n.93+9239C>T
ENST00000697624.1:n.200+9239C>T
ENST00000697625.1:c.93+9239C>T ENSP00000513362.1:n.93+9239C>T
ENST00000697636.1:c.93+9239C>T ENSP00000513366.1:n.93+9239C>T
ENST00000697637.1:c.93+9239C>T ENSP00000513367.1:n.93+9239C>T
ENST00000697664.1:c.140+5075C>T ENSP00000513389.1:n.140+5075C>T
ENST00000697665.1:c.93+9239C>T ENSP00000513390.1:n.93+9239C>T
ENST00000697666.1:c.140+5075C>T ENSP00000513391.1:n.140+5075C>T
ENST00000355622.8:c.1676C>T MANE Select ENSP00000363089.5:p.Ser559Phe
ENST00000394487.5:c.1556C>T ENSP00000377997.4:p.Ser519Phe
ENST00000472304.2:c.*1410C>T ENSP00000496429.1:n.*1410C>T
ENST00000642985.1:c.260+5075C>T ENSP00000493686.1:n.260+5075C>T
ENST00000646089.1:c.93+9239C>T ENSP00000496197.1:n.93+9239C>T
ENST00000665764.1:c.93+9239C>T ENSP00000499745.1:n.93+9239C>T
ENST00000355622.6:c.1676C>T ENSP00000363089.5:p.Ser559Phe
ENST00000394487.4:c.1556C>T ENSP00000377997.4:p.Ser519Phe
ENST00000472304.1:n.1593C>T
NM_003266.3:c.1556C>T NP_003257.1:p.Ser519Phe
NM_138554.4:c.1676C>T NP_612564.1:p.Ser559Phe
NM_138557.2:c.1076C>T NP_612567.1:p.Ser359Phe
NM_138554.5:c.1676C>T MANE Select NP_612564.1:p.Ser559Phe
NM_003266.4:c.1556C>T NP_003257.1:p.Ser519Phe
NM_138557.3:c.1076C>T NP_612567.1:p.Ser359Phe