Canonical Allele Identifier: CA565018290
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1258567842
gnomAD v2: 6-1612993-CTTTT-C
gnomAD v3: 6-1612758-CTTTT-C
gnomAD v4: 6-1612758-CTTTT-C
MyVariant Identifiers: chr6:g.1612994_1612997del (hg19) chr6:g.1612759_1612762del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612759_1612762del , CM000668.2:g.1612759_1612762del GRCh38
NC_000006.11:g.1612994_1612997del , CM000668.1:g.1612994_1612997del GRCh37
NC_000006.10:g.1557993_1557996del NCBI36
NG_009368.1:g.7314_7317del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.*652_*655del MANE Select ENSP00000493906.1:n.*652_*655del
ENST00000380874.3:c.*652_*655del ENSP00000370256.2:n.*652_*655del
NM_001453.2:c.2314_2317del NP_001444.2:n.2314_2317del
NM_001453.3:c.*652_*655del MANE Select NP_001444.2:n.*652_*655del
Search 100 bp 5'
Search 100 bp 3'