Canonical Allele Identifier: CA2499218186
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1048885
ClinVar RCV Id: RCV001354281
dbSNP Id: rs2113112074
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611032_1611083del , CM000668.2:g.1611032_1611083del GRCh38
NC_000006.11:g.1611267_1611318del , CM000668.1:g.1611267_1611318del GRCh37
NC_000006.10:g.1556266_1556317del NCBI36
NG_009368.1:g.5587_5638del

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.587_638del MANE Select ENSP00000493906.1:p.Pro196ArgfsTer?
ENST00000380874.3:c.587_638del ENSP00000370256.2:p.Pro196ArgfsTer?
NM_001453.2:c.587_638del NP_001444.2:p.Pro196ArgfsTer?
NM_001453.3:c.587_638del MANE Select NP_001444.2:p.Pro196ArgfsTer?
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