Canonical Allele Identifier: CA3614694

Gene: FOXC1

Linked Data

• ClinVar Variation Id: 469652
• ClinVar RCV Id: RCV000559210 ; RCV000595267 ; RCV001573914 ; RCV003925670
• dbSNP Id: rs756196843
• ExAC: 6:1610760 GCGCGGCGGC / G
• gnomAD v2: 6-1610760-GCGCGGCGGC-G
• gnomAD v3: 6-1610525-GCGCGGCGGC-G
• gnomAD v4: 6-1610525-GCGCGGCGGC-G
• MyVariant Identifiers: chr6:g.1610772_1610780del (hg19) ; chr6:g.1610761_1610769del (hg19) ; chr6:g.1610537_1610545del (hg38) ; chr6:g.1610527_1610535del (hg38) ; chr6:g.1610526_1610534del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610537_1610545del , CM000668.2:g.1610537_1610545del	GRCh38
NC_000006.11:g.1610772_1610780del , CM000668.1:g.1610772_1610780del	GRCh37
NC_000006.10:g.1555771_1555779del	NCBI36
NG_009368.1:g.5092_5100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.92_100del MANE Select	ENSP00000493906.1:p.Ala31_Ala33del
ENST00000380874.3:c.92_100del	ENSP00000370256.2:p.Ala31_Ala33del
NM_001453.2:c.92_100del	NP_001444.2:p.Ala31_Ala33del
NM_001453.3:c.92_100del MANE Select	NP_001444.2:p.Ala31_Ala33del