Canonical Allele Identifier: CA658683436
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 495292
ClinVar RCV Id: RCV000585863
dbSNP Id: rs1554100963

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610854_1610856del , CM000668.2:g.1610854_1610856del GRCh38
NC_000006.11:g.1611089_1611091del , CM000668.1:g.1611089_1611091del GRCh37
NC_000006.10:g.1556088_1556090del NCBI36
NG_009368.1:g.5409_5411del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.409_411del MANE Select ENSP00000493906.1:p.Val137del
ENST00000380874.3:c.409_411del ENSP00000370256.2:p.Val137del
NM_001453.2:c.409_411del NP_001444.2:p.Val137del
NM_001453.3:c.409_411del MANE Select NP_001444.2:p.Val137del