Canonical Allele Identifier: CA314640

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 205502
• ClinVar RCV Id: RCV000187478
• dbSNP Id: rs796052476
• MyVariant Identifiers: chr14:g.29236868dupG (hg19) ; chr14:g.28767662dupG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767662dup , CM000676.2:g.28767662dup	GRCh38
NC_000014.8:g.29236868dup , CM000676.1:g.29236868dup	GRCh37
NC_000014.7:g.28306619dup	NCBI36
NG_009367.1:g.5582dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.383dup	ENSP00000516406.1:p.Glu129ArgfsTer?
ENST00000313071.7:c.383dup MANE Select	ENSP00000339004.3:p.Glu129ArgfsTer?
ENST00000313071.6:c.383dup	ENSP00000339004.3:p.Glu129ArgfsTer?
NM_005249.4:c.383dup	NP_005240.3:p.Glu129ArgfsTer?
NM_005249.5:c.383dup MANE Select	NP_005240.3:p.Glu129ArgfsTer?