Canonical Allele Identifier: CA374348384
Gene: FOXE1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.97854657C>A
GRCh37 chr9:g.100616939C>A
Revel Score:
ENST00000375123 (MANE Select) 0.346
gnomAD v3:
9:97854657 C / A
gnomAD v4:
chr9-97854657-C-A
Joint Max Group AF 7.4e-7 (NFE)
Exomes Max Group AF 3.3e-7 (NFE)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000375123.5:c.743C>A MANE Select ENSP00000364265.3:p.Ala248Asp
ENST00000375123.4:c.743C>A ENSP00000364265.3:p.Ala248Asp
NM_004473.3:c.743C>A NP_004464.2:p.Ala248Asp
NM_004473.4:c.743C>A MANE Select NP_004464.2:p.Ala248Asp
Search 100 bp 5'
Search 100 bp 3'