Canonical Allele Identifier: CA2573149902
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1413954
ClinVar RCV Id: RCV001928431
dbSNP Id: rs2138661370
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767969_28767976dup , CM000676.2:g.28767969_28767976dup GRCh38
NC_000014.8:g.29237175_29237182dup , CM000676.1:g.29237175_29237182dup GRCh37
NC_000014.7:g.28306926_28306933dup NCBI36
NG_009367.1:g.5889_5896dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.690_697dup ENSP00000516406.1:p.Leu233ProfsTer11
ENST00000313071.7:c.690_697dup MANE Select ENSP00000339004.3:p.Leu233ProfsTer11
ENST00000313071.6:c.690_697dup ENSP00000339004.3:p.Leu233ProfsTer11
NM_005249.4:c.690_697dup NP_005240.3:p.Leu233ProfsTer11
NM_005249.5:c.690_697dup MANE Select NP_005240.3:p.Leu233ProfsTer11
Search 100 bp 5'
Search 100 bp 3'