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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:
CA199444
Gene: FOXG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189620
ClinVar RCV Id:
RCV000170082
dbSNP Id:
rs786205009
COSMIC:
COSM4685358
MyVariant Identifiers:
chr14:g.29237215C>T (hg19)
chr14:g.28768009C>T (hg38)
PubMed:
PMID:21270142
PMID:27479843
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28768009C>T , CM000676.2:g.28768009C>T
GRCh38
NC_000014.8:g.29237215C>T , CM000676.1:g.29237215C>T
GRCh37
NC_000014.7:g.28306966C>T
NCBI36
NG_009367.1:g.5929C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.730C>T
ENSP00000516406.1:p.Arg244Cys
ENST00000313071.7:c.730C>T
MANE Select
ENSP00000339004.3:p.Arg244Cys
ENST00000313071.6:c.730C>T
ENSP00000339004.3:p.Arg244Cys
NM_005249.4:c.730C>T
NP_005240.3:p.Arg244Cys
NM_005249.5:c.730C>T
MANE Select
NP_005240.3:p.Arg244Cys
Search 100 bp 5'
Search 100 bp 3'