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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA374347038
Gene: FOXE1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.100616287G>T (hg19)
chr9:g.97854005G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97854005G>T , CM000671.2:g.97854005G>T
GRCh38
NC_000009.11:g.100616287G>T , CM000671.1:g.100616287G>T
GRCh37
NC_000009.10:g.99656108G>T
NCBI36
NG_011979.1:g.5751G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000375123.5:c.91G>T
MANE Select
ENSP00000364265.3:p.Val31Phe
ENST00000375123.4:c.91G>T
ENSP00000364265.3:p.Val31Phe
NM_004473.3:c.91G>T
NP_004464.2:p.Val31Phe
NM_004473.4:c.91G>T
MANE Select
NP_004464.2:p.Val31Phe
Search 100 bp 5'
Search 100 bp 3'