Canonical Allele Identifier: CA235498

Gene: FOXC1

Linked Data

• ClinVar Variation Id: 183250
• ClinVar RCV Id: RCV000162083 ; RCV000991164
• dbSNP Id: rs185790394
• gnomAD v2: 6-1610437-C-T
• gnomAD v3: 6-1610202-C-T
• gnomAD v4: 6-1610202-C-T
• MyVariant Identifiers: chr6:g.1610437C>T (hg19) ; chr6:g.1610202C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610202C>T , CM000668.2:g.1610202C>T	GRCh38
NC_000006.11:g.1610437C>T , CM000668.1:g.1610437C>T	GRCh37
NC_000006.10:g.1555436C>T	NCBI36
NG_009368.1:g.4757C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000645831.2:c.-244C>T MANE Select	ENSP00000493906.1:n.-244C>T
ENST00000380874.3:c.-244C>T	ENSP00000370256.2:n.-244C>T
NM_001453.3:c.-244C>T MANE Select	NP_001444.2:n.-244C>T