Canonical Allele Identifier: CA362558657
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693141
ClinVar RCV Id: RCV002293576

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610811G>A , CM000668.2:g.1610811G>A GRCh38
NC_000006.11:g.1611046G>A , CM000668.1:g.1611046G>A GRCh37
NC_000006.10:g.1556045G>A NCBI36
NG_009368.1:g.5366G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.366G>A MANE Select ENSP00000493906.1:p.Trp122Ter
ENST00000380874.3:c.366G>A ENSP00000370256.2:p.Trp122Ter
NM_001453.2:c.366G>A NP_001444.2:p.Trp122Ter
NM_001453.3:c.366G>A MANE Select NP_001444.2:p.Trp122Ter