Canonical Allele Identifier: CA826744
Gene: TOE1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.45343126C>A
GRCh37 chr1:g.45808798C>A
Revel Score:
ENST00000372090 (MANE Select) 0.800
ENST00000539779 0.800
gnomAD v2:
1:45808798 C / A
gnomAD v3:
1:45343126 C / A
gnomAD v4:
chr1-45343126-C-A
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
404652
ClinVar RCV:
RCV000477716
ClinVar Variation:
417751
dbSNP:
758153898
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45343126C>A , CM000663.2:g.45343126C>A GRCh38
NC_000001.10:g.45808798C>A , CM000663.1:g.45808798C>A GRCh37
NC_000001.9:g.45581385C>A NCBI36
NG_008189.1:g.2345G>T , LRG_220:g.2345G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372090.6:c.957C>A MANE Select ENSP00000361162.5:p.His319Gln
ENST00000671898.1:c.541-8615G>T ENSP00000499896.1:n.541-8615G>T
ENST00000372090.5:c.957C>A ENSP00000361162.5:p.His319Gln
ENST00000495703.5:n.1335C>A
NM_025077.3:c.957C>A NP_079353.3:p.His319Gln
XM_005270412.2:c.975C>A XP_005270469.1:p.His325Gln
XM_005270413.3:c.819C>A XP_005270470.1:p.His273Gln
XM_011540569.1:c.576C>A XP_011538871.1:p.His192Gln
XR_246230.2:n.1342C>A
XR_426587.2:n.1162C>A
XR_946532.1:n.1158C>A
XM_005270412.4:c.975C>A XP_005270469.1:p.His325Gln
XM_005270413.5:c.819C>A XP_005270470.1:p.His273Gln
XM_011540569.3:c.576C>A XP_011538871.1:p.His192Gln
XM_024452837.1:c.906C>A XP_024308605.1:p.His302Gln
XR_001736951.2:n.1248C>A
XR_002959287.1:n.1654C>A
XR_246230.4:n.1252C>A
XR_426587.4:n.1162C>A
XR_946532.3:n.1158C>A
NM_025077.4:c.957C>A MANE Select NP_079353.3:p.His319Gln
Search 100 bp 5'
Search 100 bp 3'