Canonical Allele Identifier: CA3614719
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1344728
ClinVar RCV Id: RCV001849729
dbSNP Id: rs780038931
ExAC: 6:1610883 C / CGCCGCA
gnomAD v2: 6-1610883-C-CGCCGCA
gnomAD v4: 6-1610648-C-CGCCGCA
MyVariant Identifiers: chr6:g.1610883_1610884insGCCGCA (hg19) chr6:g.1610648_1610649insGCCGCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610658_1610663dup , CM000668.2:g.1610658_1610663dup GRCh38
NC_000006.11:g.1610893_1610898dup , CM000668.1:g.1610893_1610898dup GRCh37
NC_000006.10:g.1555892_1555897dup NCBI36
NG_009368.1:g.5213_5218dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.213_218dup MANE Select ENSP00000493906.1:p.Pro73_Lys74insGlnPro
ENST00000380874.3:c.213_218dup ENSP00000370256.2:p.Pro73_Lys74insGlnPro
NM_001453.2:c.213_218dup NP_001444.2:p.Pro73_Lys74insGlnPro
NM_001453.3:c.213_218dup MANE Select NP_001444.2:p.Pro73_Lys74insGlnPro
Search 100 bp 5'
Search 100 bp 3'