Canonical Allele Identifier: CA2573053889
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320101
ClinVar RCV Id: RCV001775274
dbSNP Id: rs2138660628
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767603_28767618dup , CM000676.2:g.28767603_28767618dup GRCh38
NC_000014.8:g.29236809_29236824dup , CM000676.1:g.29236809_29236824dup GRCh37
NC_000014.7:g.28306560_28306575dup NCBI36
NG_009367.1:g.5523_5538dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.324_339dup ENSP00000516406.1:p.Ala114ThrfsTer12
ENST00000313071.7:c.324_339dup MANE Select ENSP00000339004.3:p.Ala114ThrfsTer12
ENST00000313071.6:c.324_339dup ENSP00000339004.3:p.Ala114ThrfsTer12
NM_005249.4:c.324_339dup NP_005240.3:p.Ala114ThrfsTer12
NM_005249.5:c.324_339dup MANE Select NP_005240.3:p.Ala114ThrfsTer12
Search 100 bp 5'
Search 100 bp 3'