Canonical Allele Identifier: CA362559234
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2269851
ClinVar RCV Id: RCV002804329
dbSNP Id: rs1489771788
gnomAD v2: 6-1611308-G-A
gnomAD v4: 6-1611073-G-A
MyVariant Identifiers: chr6:g.1611308G>A (hg19) chr6:g.1611073G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611073G>A , CM000668.2:g.1611073G>A GRCh38
NC_000006.11:g.1611308G>A , CM000668.1:g.1611308G>A GRCh37
NC_000006.10:g.1556307G>A NCBI36
NG_009368.1:g.5628G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.628G>A MANE Select ENSP00000493906.1:p.Asp210Asn
ENST00000380874.3:c.628G>A ENSP00000370256.2:p.Asp210Asn
NM_001453.2:c.628G>A NP_001444.2:p.Asp210Asn
NM_001453.3:c.628G>A MANE Select NP_001444.2:p.Asp210Asn
Search 100 bp 5'
Search 100 bp 3'