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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:
CA172195
Gene: FOXG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
158600
ClinVar RCV Id:
RCV000145996
dbSNP Id:
rs587783642
MyVariant Identifiers:
chr14:g.29237247C>G (hg19)
chr14:g.28768041C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28768041C>G , CM000676.2:g.28768041C>G
GRCh38
NC_000014.8:g.29237247C>G , CM000676.1:g.29237247C>G
GRCh37
NC_000014.7:g.28306998C>G
NCBI36
NG_009367.1:g.5961C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.762C>G
ENSP00000516406.1:p.Tyr254Ter
ENST00000313071.7:c.762C>G
MANE Select
ENSP00000339004.3:p.Tyr254Ter
ENST00000313071.6:c.762C>G
ENSP00000339004.3:p.Tyr254Ter
NM_005249.4:c.762C>G
NP_005240.3:p.Tyr254Ter
NM_005249.5:c.762C>G
MANE Select
NP_005240.3:p.Tyr254Ter
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