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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:
CA222856
Gene: FOXG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95267
ClinVar RCV Id:
RCV001430866
RCV002281055
dbSNP Id:
rs398124203
gnomAD v2:
14-29236811-C-T
gnomAD v3:
14-28767605-C-T
gnomAD v4:
14-28767605-C-T
MyVariant Identifiers:
chr14:g.29236811C>T (hg19)
chr14:g.28767605C>T (hg38)
ERepo:
CA222856/MONDO:0100040/016
PubMed:
PMID:21270142
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28767605C>T , CM000676.2:g.28767605C>T
GRCh38
NC_000014.8:g.29236811C>T , CM000676.1:g.29236811C>T
GRCh37
NC_000014.7:g.28306562C>T
NCBI36
NG_009367.1:g.5525C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.326C>T
ENSP00000516406.1:p.Pro109Leu
ENST00000313071.7:c.326C>T
MANE Select
ENSP00000339004.3:p.Pro109Leu
ENST00000313071.6:c.326C>T
ENSP00000339004.3:p.Pro109Leu
NM_005249.4:c.326C>T
NP_005240.3:p.Pro109Leu
NM_005249.5:c.326C>T
MANE Select
NP_005240.3:p.Pro109Leu
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