Canonical Allele Identifier: CA374657364

Gene: TLR4

Linked Data

• MyVariant Identifiers: chr9:g.120476048G>C (hg19) ; chr9:g.117713770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.117713770G>C , CM000671.2:g.117713770G>C	GRCh38
NC_000009.11:g.120476048G>C , CM000671.1:g.120476048G>C	GRCh37
NC_000009.10:g.119515869G>C	NCBI36
NG_011475.1:g.14589G>C
NG_011475.2:g.14368G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646089.2:c.93+9205G>C	ENSP00000496197.1:n.93+9205G>C
ENST00000697624.1:n.200+9205G>C
ENST00000697625.1:c.93+9205G>C	ENSP00000513362.1:n.93+9205G>C
ENST00000697636.1:c.93+9205G>C	ENSP00000513366.1:n.93+9205G>C
ENST00000697637.1:c.93+9205G>C	ENSP00000513367.1:n.93+9205G>C
ENST00000697664.1:c.140+5041G>C	ENSP00000513389.1:n.140+5041G>C
ENST00000697665.1:c.93+9205G>C	ENSP00000513390.1:n.93+9205G>C
ENST00000697666.1:c.140+5041G>C	ENSP00000513391.1:n.140+5041G>C
ENST00000355622.8:c.1642G>C MANE Select	ENSP00000363089.5:p.Val548Leu
ENST00000394487.5:c.1522G>C	ENSP00000377997.4:p.Val508Leu
ENST00000472304.2:c.*1376G>C	ENSP00000496429.1:n.*1376G>C
ENST00000642985.1:c.260+5041G>C	ENSP00000493686.1:n.260+5041G>C
ENST00000646089.1:c.93+9205G>C	ENSP00000496197.1:n.93+9205G>C
ENST00000665764.1:c.93+9205G>C	ENSP00000499745.1:n.93+9205G>C
ENST00000355622.6:c.1642G>C	ENSP00000363089.5:p.Val548Leu
ENST00000394487.4:c.1522G>C	ENSP00000377997.4:p.Val508Leu
ENST00000472304.1:n.1559G>C
NM_003266.3:c.1522G>C	NP_003257.1:p.Val508Leu
NM_138554.4:c.1642G>C	NP_612564.1:p.Val548Leu
NM_138557.2:c.1042G>C	NP_612567.1:p.Val348Leu
NM_138554.5:c.1642G>C MANE Select	NP_612564.1:p.Val548Leu
NM_003266.4:c.1522G>C	NP_003257.1:p.Val508Leu
NM_138557.3:c.1042G>C	NP_612567.1:p.Val348Leu