Canonical Allele Identifier: CA448393215
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 747195
ClinVar RCV Id: RCV000923883
dbSNP Id: rs1581373411
gnomAD v4: 6-1610469-C-T
MyVariant Identifiers: chr6:g.1610704C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610469C>T , CM000668.2:g.1610469C>T GRCh38
NC_000006.11:g.1610704C>T , CM000668.1:g.1610704C>T GRCh37
NC_000006.10:g.1555703C>T NCBI36
NG_009368.1:g.5024C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.24C>T MANE Select ENSP00000493906.1:p.Ser8=
ENST00000380874.3:c.24C>T ENSP00000370256.2:p.Ser8=
NM_001453.2:c.24C>T NP_001444.2:p.Ser8=
NM_001453.3:c.24C>T MANE Select NP_001444.2:p.Ser8=
Search 100 bp 5'
Search 100 bp 3'