Canonical Allele Identifier: CA374656285
Gene: TLR4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.117713291A>T , CM000671.2:g.117713291A>T GRCh38
NC_000009.11:g.120475569A>T , CM000671.1:g.120475569A>T GRCh37
NC_000009.10:g.119515390A>T NCBI36
NG_011475.1:g.14110A>T
NG_011475.2:g.13889A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646089.2:c.93+8726A>T ENSP00000496197.1:n.93+8726A>T
ENST00000697624.1:n.200+8726A>T
ENST00000697625.1:c.93+8726A>T ENSP00000513362.1:n.93+8726A>T
ENST00000697636.1:c.93+8726A>T ENSP00000513366.1:n.93+8726A>T
ENST00000697637.1:c.93+8726A>T ENSP00000513367.1:n.93+8726A>T
ENST00000697664.1:c.140+4562A>T ENSP00000513389.1:n.140+4562A>T
ENST00000697665.1:c.93+8726A>T ENSP00000513390.1:n.93+8726A>T
ENST00000697666.1:c.140+4562A>T ENSP00000513391.1:n.140+4562A>T
ENST00000355622.8:c.1163A>T MANE Select ENSP00000363089.5:p.Lys388Ile
ENST00000394487.5:c.1043A>T ENSP00000377997.4:p.Lys348Ile
ENST00000472304.2:c.*897A>T ENSP00000496429.1:n.*897A>T
ENST00000642985.1:c.260+4562A>T ENSP00000493686.1:n.260+4562A>T
ENST00000646089.1:c.93+8726A>T ENSP00000496197.1:n.93+8726A>T
ENST00000665764.1:c.93+8726A>T ENSP00000499745.1:n.93+8726A>T
ENST00000355622.6:c.1163A>T ENSP00000363089.5:p.Lys388Ile
ENST00000394487.4:c.1043A>T ENSP00000377997.4:p.Lys348Ile
ENST00000472304.1:n.1080A>T
NM_003266.3:c.1043A>T NP_003257.1:p.Lys348Ile
NM_138554.4:c.1163A>T NP_612564.1:p.Lys388Ile
NM_138557.2:c.563A>T NP_612567.1:p.Lys188Ile
NM_138554.5:c.1163A>T MANE Select NP_612564.1:p.Lys388Ile
NM_003266.4:c.1043A>T NP_003257.1:p.Lys348Ile
NM_138557.3:c.563A>T NP_612567.1:p.Lys188Ile