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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:
CA389474865
Gene: FOXG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
652784
ClinVar RCV Id:
RCV000808421
dbSNP Id:
rs1594383213
gnomAD v3:
14-28767602-C-T
gnomAD v4:
14-28767602-C-T
MyVariant Identifiers:
chr14:g.29236808C>T (hg19)
chr14:g.28767602C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28767602C>T , CM000676.2:g.28767602C>T
GRCh38
NC_000014.8:g.29236808C>T , CM000676.1:g.29236808C>T
GRCh37
NC_000014.7:g.28306559C>T
NCBI36
NG_009367.1:g.5522C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.323C>T
ENSP00000516406.1:p.Pro108Leu
ENST00000313071.7:c.323C>T
MANE Select
ENSP00000339004.3:p.Pro108Leu
ENST00000313071.6:c.323C>T
ENSP00000339004.3:p.Pro108Leu
NM_005249.4:c.323C>T
NP_005240.3:p.Pro108Leu
NM_005249.5:c.323C>T
MANE Select
NP_005240.3:p.Pro108Leu
Search 100 bp 5'
Search 100 bp 3'