Canonical Allele Identifier: CA2580087997

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 2018128
• ClinVar RCV Id: RCV002870734

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767668del , CM000676.2:g.28767668del	GRCh38
NC_000014.8:g.29236874del , CM000676.1:g.29236874del	GRCh37
NC_000014.7:g.28306625del	NCBI36
NG_009367.1:g.5588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.389del	ENSP00000516406.1:p.Pro130ArgfsTer?
ENST00000313071.7:c.389del MANE Select	ENSP00000339004.3:p.Pro130ArgfsTer?
ENST00000313071.6:c.389del	ENSP00000339004.3:p.Pro130ArgfsTer?
NM_005249.4:c.389del	NP_005240.3:p.Pro130ArgfsTer?
NM_005249.5:c.389del MANE Select	NP_005240.3:p.Pro130ArgfsTer?