Canonical Allele Identifier: CA199437
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 189615
ClinVar RCV Id: RCV000170077
dbSNP Id: rs786205004
MyVariant Identifiers: chr14:g.29237037dupC (hg19) chr14:g.28767831dupC (hg38)
PubMed: PMID:19578037
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767831dup , CM000676.2:g.28767831dup GRCh38
NC_000014.8:g.29237037dup , CM000676.1:g.29237037dup GRCh37
NC_000014.7:g.28306788dup NCBI36
NG_009367.1:g.5751dup

Transcript Alleles

HGVS Amino-acid change
ENST00000706482.1:c.552dup ENSP00000516406.1:p.Ser185GlnfsTer?
ENST00000313071.7:c.552dup MANE Select ENSP00000339004.3:p.Ser185GlnfsTer?
ENST00000313071.6:c.552dup ENSP00000339004.3:p.Ser185GlnfsTer?
NM_005249.4:c.552dup NP_005240.3:p.Ser185GlnfsTer?
NM_005249.5:c.552dup MANE Select NP_005240.3:p.Ser185GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'