Canonical Allele Identifier: CA16044267
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375428
dbSNP Id: rs1057519479

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611111_1611126del , CM000668.2:g.1611111_1611126del GRCh38
NC_000006.11:g.1611346_1611361del , CM000668.1:g.1611346_1611361del GRCh37
NC_000006.10:g.1556345_1556360del NCBI36
NG_009368.1:g.5666_5681del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.666_681del MANE Select ENSP00000493906.1:p.Ile223ProfsTer?
ENST00000380874.3:c.666_681del ENSP00000370256.2:p.Ile223ProfsTer?
NM_001453.2:c.666_681del NP_001444.2:p.Ile223ProfsTer?
NM_001453.3:c.666_681del MANE Select NP_001444.2:p.Ile223ProfsTer?