Canonical Allele Identifier: CA658683435

Gene: FOXC1

Linked Data

• ClinVar Variation Id: 495293
• ClinVar RCV Id: RCV000585805
• dbSNP Id: rs1554100953
• MyVariant Identifiers: chr6:g.1611029del (hg19) ; chr6:g.1610794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610794del , CM000668.2:g.1610794del	GRCh38
NC_000006.11:g.1611029del , CM000668.1:g.1611029del	GRCh37
NC_000006.10:g.1556028del	NCBI36
NG_009368.1:g.5349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.349del MANE Select	ENSP00000493906.1:p.Asp117ThrfsTer?
ENST00000380874.3:c.349del	ENSP00000370256.2:p.Asp117ThrfsTer?
NM_001453.2:c.349del	NP_001444.2:p.Asp117ThrfsTer?
NM_001453.3:c.349del MANE Select	NP_001444.2:p.Asp117ThrfsTer?