Canonical Allele Identifier: CA891843163
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 568112
ClinVar RCV Id: RCV000688364
MyVariant Identifiers: chr6:g.1610681_1614132del (hg19) chr6:g.1610446_1613897del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610446_1613897del , CM000668.2:g.1610446_1613897del GRCh38
NC_000006.11:g.1610681_1614132del , CM000668.1:g.1610681_1614132del GRCh37
NC_000006.10:g.1555680_1559131del NCBI36
NG_009368.1:g.5001_8452del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.1_*1790del MANE Select ENSP00000493906.1:n.[c.1_*1790del;Met1=]
ENST00000380874.3:c.1_*1790del ENSP00000370256.2:n.[c.1_*1790del;Met1=]
NM_001453.2:c.1_3452del NP_001444.2:n.[c.1_3452del;Met1=]
NM_001453.3:c.1_*1790del MANE Select NP_001444.2:n.[c.1_*1790del;Met1=]
Search 100 bp 5'
Search 100 bp 3'