Canonical Allele Identifier: CA821650138
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1294603483
gnomAD v3: 6-1612811-AT-A
gnomAD v4: 6-1612811-AT-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612813del , CM000668.2:g.1612813del GRCh38
NC_000006.11:g.1613048del , CM000668.1:g.1613048del GRCh37
NC_000006.10:g.1558047del NCBI36
NG_009368.1:g.7368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*706del MANE Select ENSP00000493906.1:n.*706del
ENST00000380874.3:c.*706del ENSP00000370256.2:n.*706del
NM_001453.2:c.2368del NP_001444.2:n.2368del
NM_001453.3:c.*706del MANE Select NP_001444.2:n.*706del