Canonical Allele Identifier: CA13063523
Gene: FOXE1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.97855151A>C
GRCh37 chr9:g.100617433A>C
gnomAD v2:
9:100617433 A / C
gnomAD v3:
9:97855151 A / C
gnomAD v4:
chr9-97855151-A-C
Joint Max Group AF 0.27405965 (AFR)
Genomes Max Group AF 0.27079762 (AFR)
Exomes Max Group AF 0.27565721 (AFR)
ClinVar RCV:
RCV001614384
ClinVar Variation:
1228293
dbSNP:
7043516
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97855151A>C , CM000671.2:g.97855151A>C GRCh38
NC_000009.11:g.100617433A>C , CM000671.1:g.100617433A>C GRCh37
NC_000009.10:g.99657254A>C NCBI36
NG_011979.1:g.6897A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375123.5:c.*115A>C MANE Select ENSP00000364265.3:n.*115A>C
ENST00000375123.4:c.*115A>C ENSP00000364265.3:n.*115A>C
NM_004473.3:c.*115A>C NP_004464.2:n.*115A>C
NM_004473.4:c.*115A>C MANE Select NP_004464.2:n.*115A>C
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