Canonical Allele Identifier: CA199433

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 189612
• ClinVar RCV Id: RCV000170073 ; RCV000187475 ; RCV001507052
• dbSNP Id: rs786205001
• gnomAD v2: 14-29236734-GC-G
• gnomAD v4: 14-28767528-GC-G
• MyVariant Identifiers: chr14:g.29236741del (hg19) ; chr14:g.29236735del (hg19) ; chr14:g.28767535del (hg38) ; chr14:g.28767529del (hg38)
• ERepo: CA199433/MONDO:0100040/016
• PubMed: PMID:22739344

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767535del , CM000676.2:g.28767535del	GRCh38
NC_000014.8:g.29236741del , CM000676.1:g.29236741del	GRCh37
NC_000014.7:g.28306492del	NCBI36
NG_009367.1:g.5455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.256del	ENSP00000516406.1:p.Gln86ArgfsTer?
ENST00000313071.7:c.256del MANE Select	ENSP00000339004.3:p.Gln86ArgfsTer?
ENST00000313071.6:c.256del	ENSP00000339004.3:p.Gln86ArgfsTer?
NM_005249.4:c.256del	NP_005240.3:p.Gln86ArgfsTer?
NM_005249.5:c.256del MANE Select	NP_005240.3:p.Gln86ArgfsTer?