Canonical Allele Identifier: CA199438

Gene: FOXG1

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

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