Canonical Allele Identifier: CA119644
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8461
ClinVar RCV Id: RCV000008981
dbSNP Id: rs121909339

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610803C>T , CM000668.2:g.1610803C>T GRCh38
NC_000006.11:g.1611038C>T , CM000668.1:g.1611038C>T GRCh37
NC_000006.10:g.1556037C>T NCBI36
NG_009368.1:g.5358C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.358C>T MANE Select ENSP00000493906.1:p.Gln120Ter
ENST00000380874.3:c.358C>T ENSP00000370256.2:p.Gln120Ter
NM_001453.2:c.358C>T NP_001444.2:p.Gln120Ter
NM_001453.3:c.358C>T MANE Select NP_001444.2:p.Gln120Ter