Canonical Allele Identifier: CA658658250

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 451937
• ClinVar RCV Id: RCV000524001 ; RCV000648316 ; RCV001507031
• dbSNP Id: rs1555321206
• MyVariant Identifiers: chr14:g.29236662_29236671dup (hg19) ; chr14:g.28767456_28767465dup (hg38)
• ERepo: CA658658250/MONDO:0100040/016

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767456_28767465dup , CM000676.2:g.28767456_28767465dup	GRCh38
NC_000014.8:g.29236662_29236671dup , CM000676.1:g.29236662_29236671dup	GRCh37
NC_000014.7:g.28306413_28306422dup	NCBI36
NG_009367.1:g.5376_5385dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.177_186dup	ENSP00000516406.1:p.Pro63AlafsTer?
ENST00000313071.7:c.177_186dup MANE Select	ENSP00000339004.3:p.Pro63AlafsTer?
ENST00000313071.6:c.177_186dup	ENSP00000339004.3:p.Pro63AlafsTer?
NM_005249.4:c.177_186dup	NP_005240.3:p.Pro63AlafsTer?
NM_005249.5:c.177_186dup MANE Select	NP_005240.3:p.Pro63AlafsTer?