Canonical Allele Identifier: CA16044259
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375420
ClinVar RCV Id: RCV000416515
dbSNP Id: rs1057519471

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610545_1610554del , CM000668.2:g.1610545_1610554del GRCh38
NC_000006.11:g.1610780_1610789del , CM000668.1:g.1610780_1610789del GRCh37
NC_000006.10:g.1555779_1555788del NCBI36
NG_009368.1:g.5100_5109del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.100_109del MANE Select ENSP00000493906.1:p.Gly34ThrfsTer8
ENST00000380874.3:c.100_109del ENSP00000370256.2:p.Gly34ThrfsTer8
NM_001453.2:c.100_109del NP_001444.2:p.Gly34ThrfsTer8
NM_001453.3:c.100_109del MANE Select NP_001444.2:p.Gly34ThrfsTer8