Canonical Allele Identifier: CA2580074185
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1710332
ClinVar RCV Id: RCV002291339
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610606del , CM000668.2:g.1610606del GRCh38
NC_000006.11:g.1610841del , CM000668.1:g.1610841del GRCh37
NC_000006.10:g.1555840del NCBI36
NG_009368.1:g.5161del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.161del MANE Select ENSP00000493906.1:p.Glu54GlyfsTer24
ENST00000380874.3:c.161del ENSP00000370256.2:p.Glu54GlyfsTer24
NM_001453.2:c.161del NP_001444.2:p.Glu54GlyfsTer24
NM_001453.3:c.161del MANE Select NP_001444.2:p.Glu54GlyfsTer24
Search 100 bp 5'
Search 100 bp 3'