Canonical Allele Identifier: CA133392649

Gene: FOXC1

Linked Data

• dbSNP Id: rs946499603
• gnomAD v3: 6-1612975-C-CT
• gnomAD v4: 6-1612975-C-CT
• MyVariant Identifiers: chr6:g.1613210_1613211insT (hg19) ; chr6:g.1612975_1612976insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1612980dup , CM000668.2:g.1612980dup	GRCh38
NC_000006.11:g.1613215dup , CM000668.1:g.1613215dup	GRCh37
NC_000006.10:g.1558214dup	NCBI36
NG_009368.1:g.7535dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.*873dup MANE Select	ENSP00000493906.1:n.*873dup
ENST00000380874.3:c.*873dup	ENSP00000370256.2:n.*873dup
NM_001453.2:c.2535dup	NP_001444.2:n.2535dup
NM_001453.3:c.*873dup MANE Select	NP_001444.2:n.*873dup