Canonical Allele Identifier: CA613324862

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 1115188
• ClinVar RCV Id: RCV001443154 ; RCV002439042
• dbSNP Id: rs1318259337
• gnomAD v2: 14-29236763-CCGA-C
• gnomAD v3: 14-28767557-CCGA-C
• gnomAD v4: 14-28767557-CCGA-C
• MyVariant Identifiers: chr14:g.29236764_29236766del (hg19) ; chr14:g.28767558_28767560del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767565_28767567del , CM000676.2:g.28767565_28767567del	GRCh38
NC_000014.8:g.29236771_29236773del , CM000676.1:g.29236771_29236773del	GRCh37
NC_000014.7:g.28306522_28306524del	NCBI36
NG_009367.1:g.5485_5487del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.286_288del	ENSP00000516406.1:p.Asp96del
ENST00000313071.7:c.286_288del MANE Select	ENSP00000339004.3:p.Asp96del
ENST00000313071.6:c.286_288del	ENSP00000339004.3:p.Asp96del
NM_005249.4:c.286_288del	NP_005240.3:p.Asp96del
NM_005249.5:c.286_288del MANE Select	NP_005240.3:p.Asp96del