Canonical Allele Identifier: CA235499
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183251
dbSNP Id: rs77888940
gnomAD v2: 6-1610252-C-G
gnomAD v3: 6-1610017-C-G
gnomAD v4: 6-1610017-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610017C>G , CM000668.2:g.1610017C>G GRCh38
NC_000006.11:g.1610252C>G , CM000668.1:g.1610252C>G GRCh37
NC_000006.10:g.1555251C>G NCBI36
NG_009368.1:g.4572C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-429C>G MANE Select ENSP00000493906.1:n.-429C>G
ENST00000380874.3:c.-429C>G ENSP00000370256.2:n.-429C>G
NM_001453.3:c.-429C>G MANE Select NP_001444.2:n.-429C>G