Canonical Allele Identifier: CA235500
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183252
ClinVar RCV Id: RCV000162085
dbSNP Id: rs730882054

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611579_1611589del , CM000668.2:g.1611579_1611589del GRCh38
NC_000006.11:g.1611814_1611824del , CM000668.1:g.1611814_1611824del GRCh37
NC_000006.10:g.1556813_1556823del NCBI36
NG_009368.1:g.6134_6144del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.1134_1144del MANE Select ENSP00000493906.1:p.Gly380ArgfsTer?
ENST00000380874.3:c.1134_1144del ENSP00000370256.2:p.Gly380ArgfsTer?
NM_001453.2:c.1134_1144del NP_001444.2:p.Gly380ArgfsTer?
NM_001453.3:c.1134_1144del MANE Select NP_001444.2:p.Gly380ArgfsTer?