Canonical Allele Identifier: CA133392257
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs527848565
gnomAD v2: 6-1612736-AC-A
gnomAD v3: 6-1612501-AC-A
gnomAD v4: 6-1612501-AC-A
MyVariant Identifiers: chr6:g.1612737del (hg19) chr6:g.1612502del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612503del , CM000668.2:g.1612503del GRCh38
NC_000006.11:g.1612738del , CM000668.1:g.1612738del GRCh37
NC_000006.10:g.1557737del NCBI36
NG_009368.1:g.7058del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*396del MANE Select ENSP00000493906.1:n.*396del
ENST00000380874.3:c.*396del ENSP00000370256.2:n.*396del
NM_001453.2:c.2058del NP_001444.2:n.2058del
NM_001453.3:c.*396del MANE Select NP_001444.2:n.*396del
Search 100 bp 5'
Search 100 bp 3'