Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA199438

Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189616

ClinVar RCV Id: RCV000170078 RCV000624178

dbSNP Id: rs786205005

MyVariant Identifiers: chr14:g.29237062G>A (hg19) chr14:g.28767856G>A (hg38)

PubMed: PMID:2760358 PMID:18571142 PMID:19578037 PMID:20356955 PMID:21441262 PMID:22190898 PMID:22998673 PMID:24766421 PMID:24836831 PMID:25565401 PMID:26344814 PMID:26364767 PMID:27001178 PMID:27029630 PMID:27640358 PMID:28544139

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767856G>A , CM000676.2:g.28767856G>A	GRCh38
NC_000014.8:g.29237062G>A , CM000676.1:g.29237062G>A	GRCh37
NC_000014.7:g.28306813G>A	NCBI36
NG_009367.1:g.5776G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706482.1:c.577G>A	ENSP00000516406.1:p.Ala193Thr
ENST00000313071.7:c.577G>A MANE Select	ENSP00000339004.3:p.Ala193Thr
ENST00000313071.6:c.577G>A	ENSP00000339004.3:p.Ala193Thr
NM_005249.4:c.577G>A	NP_005240.3:p.Ala193Thr
NM_005249.5:c.577G>A MANE Select	NP_005240.3:p.Ala193Thr

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