Canonical Allele Identifier: CA821650089
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1266311285
gnomAD v3: 6-1612735-CTG-C
gnomAD v4: 6-1612735-CTG-C
MyVariant Identifiers: chr6:g.1612971_1612972del (hg19) chr6:g.1612736_1612737del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612737_1612738del , CM000668.2:g.1612737_1612738del GRCh38
NC_000006.11:g.1612972_1612973del , CM000668.1:g.1612972_1612973del GRCh37
NC_000006.10:g.1557971_1557972del NCBI36
NG_009368.1:g.7292_7293del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*630_*631del MANE Select ENSP00000493906.1:n.*630_*631del
ENST00000380874.3:c.*630_*631del ENSP00000370256.2:n.*630_*631del
NM_001453.2:c.2292_2293del NP_001444.2:n.2292_2293del
NM_001453.3:c.*630_*631del MANE Select NP_001444.2:n.*630_*631del
Search 100 bp 5'
Search 100 bp 3'