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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:
CA389474854
Gene: FOXG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1809916
ClinVar RCV Id:
RCV002508472
dbSNP Id:
rs1881789626
gnomAD v4:
14-28767596-C-T
MyVariant Identifiers:
chr14:g.29236802C>T (hg19)
chr14:g.28767596C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28767596C>T , CM000676.2:g.28767596C>T
GRCh38
NC_000014.8:g.29236802C>T , CM000676.1:g.29236802C>T
GRCh37
NC_000014.7:g.28306553C>T
NCBI36
NG_009367.1:g.5516C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.317C>T
ENSP00000516406.1:p.Pro106Leu
ENST00000313071.7:c.317C>T
MANE Select
ENSP00000339004.3:p.Pro106Leu
ENST00000313071.6:c.317C>T
ENSP00000339004.3:p.Pro106Leu
NM_005249.4:c.317C>T
NP_005240.3:p.Pro106Leu
NM_005249.5:c.317C>T
MANE Select
NP_005240.3:p.Pro106Leu
Search 100 bp 5'
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