Canonical Allele Identifier: CA204453
Gene: FOXE1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.97854657C>G
GRCh37 chr9:g.100616939C>G
Revel Score:
ENST00000375123 (MANE Select) 0.662
gnomAD v2:
9:100616939 C / G
gnomAD v3:
9:97854657 C / G
gnomAD v4:
chr9-97854657-C-G
Joint Max Group AF 0.00482826 (NFE)
Genomes Max Group AF 0.00447218 (NFE)
Exomes Max Group AF 0.00482712 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97854657C>G , CM000671.2:g.97854657C>G GRCh38
NC_000009.11:g.100616939C>G , CM000671.1:g.100616939C>G GRCh37
NC_000009.10:g.99656760C>G NCBI36
NG_011979.1:g.6403C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375123.5:c.743C>G MANE Select ENSP00000364265.3:p.Ala248Gly
ENST00000375123.4:c.743C>G ENSP00000364265.3:p.Ala248Gly
NM_004473.3:c.743C>G NP_004464.2:p.Ala248Gly
NM_004473.4:c.743C>G MANE Select NP_004464.2:p.Ala248Gly
Search 100 bp 5'
Search 100 bp 3'