Canonical Allele Identifier: CA6307794
Gene: TREH HGNC NCBI
COSMIC:
COSM3998254 (not active)
COSM3998255 (not active)
MyVariant.info:
GRCh38 chr11:g.118658994G>A
GRCh37 chr11:g.118529703G>A
Revel Score:
ENST00000529101 0.031
ENST00000530256 0.031
ENST00000264029 (MANE Select) 0.031
ENST00000450700 0.031
ENST00000525958 0.031
ENST00000397925 0.031
gnomAD v2:
11:118529703 G / A
gnomAD v3:
11:118658994 G / A
gnomAD v4:
chr11-118658994-G-A
Joint Max Group AF 0.45818271 (EAS)
Genomes Max Group AF 0.39995156 (EAS)
Exomes Max Group AF 0.46415389 (EAS)
dbSNP:
2276064
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.118658994G>A , CM000673.2:g.118658994G>A GRCh38
NC_000011.9:g.118529703G>A , CM000673.1:g.118529703G>A GRCh37
NC_000011.8:g.118034913G>A NCBI36
NG_023321.1:g.25679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264029.9:c.1456C>T MANE Select ENSP00000264029.5:p.Arg486Trp
ENST00000264029.8:c.1456C>T ENSP00000264029.5:p.Arg486Trp
ENST00000397925.2:c.1363C>T ENSP00000381020.2:p.Arg455Trp
ENST00000613915.4:c.*1233C>T ENSP00000477923.1:n.*1233C>T
NM_001301065.1:c.1363C>T NP_001287994.1:p.Arg455Trp
NM_007180.2:c.1456C>T NP_009111.2:p.Arg486Trp
XM_011542564.1:c.1033C>T XP_011540866.1:p.Arg345Trp
NM_001301065.2:c.1363C>T NP_001287994.1:p.Arg455Trp
NM_007180.3:c.1456C>T MANE Select NP_009111.2:p.Arg486Trp
Search 100 bp 5'
Search 100 bp 3'