Canonical Allele Identifier: CA16044260

Gene: FOXC1

Linked Data

• ClinVar Variation Id: 375421
• ClinVar RCV Id: RCV000416537
• dbSNP Id: rs1057519472
• MyVariant Identifiers: chr6:g.1610796_1610803del (hg19) ; chr6:g.1610561_1610568del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610561_1610568del , CM000668.2:g.1610561_1610568del	GRCh38
NC_000006.11:g.1610796_1610803del , CM000668.1:g.1610796_1610803del	GRCh37
NC_000006.10:g.1555795_1555802del	NCBI36
NG_009368.1:g.5116_5123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.116_123del MANE Select	ENSP00000493906.1:p.Ala39GlyfsTer?
ENST00000380874.3:c.116_123del	ENSP00000370256.2:p.Ala39GlyfsTer?
NM_001453.2:c.116_123del	NP_001444.2:p.Ala39GlyfsTer?
NM_001453.3:c.116_123del MANE Select	NP_001444.2:p.Ala39GlyfsTer?