Canonical Allele Identifier: CA235499

Gene: FOXC1

Linked Data

• ClinVar Variation Id: 183251
• ClinVar RCV Id: RCV000162084 ; RCV002247559
• dbSNP Id: rs77888940
• gnomAD v2: 6-1610252-C-G
• gnomAD v3: 6-1610017-C-G
• gnomAD v4: 6-1610017-C-G
• MyVariant Identifiers: chr6:g.1610252C>G (hg19) ; chr6:g.1610017C>G (hg38)

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