Canonical Allele Identifier: CA12994273
Gene: FOXE1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.97855197G>T
GRCh37 chr9:g.100617479G>T
gnomAD v2:
9:100617479 G / T
gnomAD v3:
9:97855197 G / T
gnomAD v4:
chr9-97855197-G-T
Joint Max Group AF 0.87074215 (EAS)
Genomes Max Group AF 0.86503433 (EAS)
Exomes Max Group AF 0.86890977 (EAS)
ClinVar RCV:
RCV001656366
ClinVar Variation:
1247020
dbSNP:
1443434
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97855197G>T , CM000671.2:g.97855197G>T GRCh38
NC_000009.11:g.100617479G>T , CM000671.1:g.100617479G>T GRCh37
NC_000009.10:g.99657300G>T NCBI36
NG_011979.1:g.6943G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000375123.5:c.*161G>T MANE Select ENSP00000364265.3:n.*161G>T
ENST00000375123.4:c.*161G>T ENSP00000364265.3:n.*161G>T
NM_004473.3:c.*161G>T NP_004464.2:n.*161G>T
NM_004473.4:c.*161G>T MANE Select NP_004464.2:n.*161G>T
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