Canonical Allele Identifier: CA1139663424
Gene: FOXG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 977826
ClinVar RCV Id: RCV001255735

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.28767615_28767624del , CM000676.2:g.28767615_28767624del GRCh38
NC_000014.8:g.29236821_29236830del , CM000676.1:g.29236821_29236830del GRCh37
NC_000014.7:g.28306572_28306581del NCBI36
NG_009367.1:g.5535_5544del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706482.1:c.336_345del ENSP00000516406.1:p.Ala113TrpfsTer?
ENST00000313071.7:c.336_345del MANE Select ENSP00000339004.3:p.Ala113TrpfsTer?
ENST00000313071.6:c.336_345del ENSP00000339004.3:p.Ala113TrpfsTer?
NM_005249.4:c.336_345del NP_005240.3:p.Ala113TrpfsTer?
NM_005249.5:c.336_345del MANE Select NP_005240.3:p.Ala113TrpfsTer?