Canonical Allele Identifier: CA2580074186
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2018387
ClinVar RCV Id: RCV002870799

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610618del , CM000668.2:g.1610618del GRCh38
NC_000006.11:g.1610853del , CM000668.1:g.1610853del GRCh37
NC_000006.10:g.1555852del NCBI36
NG_009368.1:g.5173del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.173del MANE Select ENSP00000493906.1:p.Gly58AlafsTer20
ENST00000380874.3:c.173del ENSP00000370256.2:p.Gly58AlafsTer20
NM_001453.2:c.173del NP_001444.2:p.Gly58AlafsTer20
NM_001453.3:c.173del MANE Select NP_001444.2:p.Gly58AlafsTer20