Canonical Allele Identifier: CA133392395
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1526349
ClinVar RCV Id: RCV002052367
dbSNP Id: rs34877245
gnomAD v2: 6-1612918-A-C
gnomAD v3: 6-1612683-A-C
gnomAD v4: 6-1612683-A-C
MyVariant Identifiers: chr6:g.1612918A>C (hg19) chr6:g.1612683A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612683A>C , CM000668.2:g.1612683A>C GRCh38
NC_000006.11:g.1612918A>C , CM000668.1:g.1612918A>C GRCh37
NC_000006.10:g.1557917A>C NCBI36
NG_009368.1:g.7238A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*576A>C MANE Select ENSP00000493906.1:n.*576A>C
ENST00000380874.3:c.*576A>C ENSP00000370256.2:n.*576A>C
NM_001453.2:c.2238A>C NP_001444.2:n.2238A>C
NM_001453.3:c.*576A>C MANE Select NP_001444.2:n.*576A>C
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