Canonical Allele Identifier: CA119632
Gene: FOXC1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8452
ClinVar RCV Id: RCV000008968
dbSNP Id: rs104893957

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610837C>T , CM000668.2:g.1610837C>T GRCh38
NC_000006.11:g.1611072C>T , CM000668.1:g.1611072C>T GRCh37
NC_000006.10:g.1556071C>T NCBI36
NG_009368.1:g.5392C>T

Transcript Alleles

HGVS Amino-acid change
NM_001453.2:n.392C>T VV NP_001444.2:p.Ser131Leu
NM_001453.3:c.392C>T VV NP_001444.2:p.Ser131Leu
ENST00000380874.3:c.392C>T ENSP00000370256.2:p.Ser131Leu