Canonical Allele Identifier: CA22068352
Gene: FOXE3 HGNC NCBI
LINC01389 HGNC NCBI
ClinVar RCV:
RCV001918504
RCV002370503
RCV003331230
ClinVar Variation:
1407551
dbSNP:
1030716081
gnomAD v2:
1:47882114 G / A
gnomAD v3:
1:47416442 G / A
gnomAD v4:
chr1-47416442-G-A
Joint Max Group AF 0.00011414 (AFR)
Genomes Max Group AF 0.00016765 (AFR)
Exomes Max Group AF 0.00015155 (AMR)
MyVariant.info:
GRCh38 chr1:g.47416442G>A
GRCh37 chr1:g.47882114G>A
Revel Score:
ENST00000335071 (MANE Select) 0.171
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47416442G>A , CM000663.2:g.47416442G>A GRCh38
NC_000001.10:g.47882114G>A , CM000663.1:g.47882114G>A GRCh37
NC_000001.9:g.47654701G>A NCBI36
NG_016192.1:g.5371G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335071.4:c.127G>A (FOXE3) MANE Select ENSP00000334472.2:p.Glu43Lys
ENST00000335071.3:c.127G>A (FOXE3) ENSP00000334472.2:p.Glu43Lys
NM_012186.2:c.127G>A (FOXE3) NP_036318.1:p.Glu43Lys
NR_126355.1:n.29-6541C>T (LINC01389)
NM_012186.3:c.127G>A (FOXE3) MANE Select NP_036318.1:p.Glu43Lys
Search 100 bp 5'
Search 100 bp 3'