Canonical Allele Identifier: CA3614715
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 698006
ClinVar RCV Id: RCV002536268
dbSNP Id: rs150084174
gnomAD v2: 6-1610875-G-A
gnomAD v3: 6-1610640-G-A
gnomAD v4: 6-1610640-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610640G>A , CM000668.2:g.1610640G>A GRCh38
NC_000006.11:g.1610875G>A , CM000668.1:g.1610875G>A GRCh37
NC_000006.10:g.1555874G>A NCBI36
NG_009368.1:g.5195G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.195G>A MANE Select ENSP00000493906.1:p.Gly65=
ENST00000380874.3:c.195G>A ENSP00000370256.2:p.Gly65=
NM_001453.2:c.195G>A NP_001444.2:p.Gly65=
NM_001453.3:c.195G>A MANE Select NP_001444.2:p.Gly65=