Canonical Allele Identifier: CA2499218185
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1072188
ClinVar RCV Id: RCV001384841
dbSNP Id: rs2113111289
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610689dup , CM000668.2:g.1610689dup GRCh38
NC_000006.11:g.1610924dup , CM000668.1:g.1610924dup GRCh37
NC_000006.10:g.1555923dup NCBI36
NG_009368.1:g.5244dup

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.244dup MANE Select ENSP00000493906.1:p.Ser82LysfsTer?
ENST00000380874.3:c.244dup ENSP00000370256.2:p.Ser82LysfsTer?
NM_001453.2:c.244dup NP_001444.2:p.Ser82LysfsTer?
NM_001453.3:c.244dup MANE Select NP_001444.2:p.Ser82LysfsTer?
Search 100 bp 5'
Search 100 bp 3'