Canonical Allele Identifier: CA16044266
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375427
dbSNP Id: rs1057519478

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611044_1611062del , CM000668.2:g.1611044_1611062del GRCh38
NC_000006.11:g.1611279_1611297del , CM000668.1:g.1611279_1611297del GRCh37
NC_000006.10:g.1556278_1556296del NCBI36
NG_009368.1:g.5599_5617del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.599_617del MANE Select ENSP00000493906.1:p.Gln200ArgfsTer?
ENST00000380874.3:c.599_617del ENSP00000370256.2:p.Gln200ArgfsTer?
NM_001453.2:c.599_617del NP_001444.2:p.Gln200ArgfsTer?
NM_001453.3:c.599_617del MANE Select NP_001444.2:p.Gln200ArgfsTer?