Canonical Allele Identifier: CA204453

Gene: FOXE1

Linked Data

• ClinVar Variation Id: 208453
• ClinVar RCV Id: RCV000190467 ; RCV000988238 ; RCV003317142
• dbSNP Id: rs538912281
• ExAC: 9:100616939 C / G
• gnomAD v2: 9-100616939-C-G
• gnomAD v3: 9-97854657-C-G
• gnomAD v4: 9-97854657-C-G
• COSMIC: COSM4985777
• MyVariant Identifiers: chr9:g.100616939C>G (hg19) ; chr9:g.97854657C>G (hg38)
• PubMed: PMID:25381600

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