Canonical Allele Identifier: CA7140590

Gene: FOXG1

Linked Data

• ClinVar Variation Id: 3042410
• ClinVar RCV Id: RCV003924539
• dbSNP Id: rs761703699
• ExAC: 14:29236677 ACCG / A
• gnomAD v2: 14-29236677-ACCG-A
• gnomAD v3: 14-28767471-ACCG-A
• gnomAD v4: 14-28767471-ACCG-A
• MyVariant Identifiers: chr14:g.29236678_29236680del (hg19) ; chr14:g.29236691_29236704delinsAGCAGCAGCAG (hg19) ; chr14:g.29236691_29236707delinsAGCAGCAGCAGCCG (hg19) ; chr14:g.28767472_28767474del (hg38) ; chr14:g.28767485_28767498delinsAGCAGCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.28767485_28767487del , CM000676.2:g.28767485_28767487del	GRCh38
NC_000014.8:g.29236691_29236693del , CM000676.1:g.29236691_29236693del	GRCh37
NC_000014.7:g.28306442_28306444del	NCBI36
NG_009367.1:g.5405_5407del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706482.1:c.206_208del	ENSP00000516406.1:p.Pro69del
ENST00000313071.7:c.206_208del MANE Select	ENSP00000339004.3:p.Pro69del
ENST00000313071.6:c.206_208del	ENSP00000339004.3:p.Pro69del
NM_005249.4:c.206_208del	NP_005240.3:p.Pro69del
NM_005249.5:c.206_208del MANE Select	NP_005240.3:p.Pro69del