Canonical Allele Identifier: CA448393206
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1569289
ClinVar RCV Id: RCV002218984
dbSNP Id: rs1363320651
gnomAD v4: 6-1610463-C-G
MyVariant Identifiers: chr6:g.1610698C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610463C>G , CM000668.2:g.1610463C>G GRCh38
NC_000006.11:g.1610698C>G , CM000668.1:g.1610698C>G GRCh37
NC_000006.10:g.1555697C>G NCBI36
NG_009368.1:g.5018C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.18C>G MANE Select ENSP00000493906.1:p.Ser6=
ENST00000380874.3:c.18C>G ENSP00000370256.2:p.Ser6=
NM_001453.2:c.18C>G NP_001444.2:p.Ser6=
NM_001453.3:c.18C>G MANE Select NP_001444.2:p.Ser6=
Search 100 bp 5'
Search 100 bp 3'