Canonical Allele Identifier: CA448393207
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2162400
ClinVar RCV Id: RCV003070222
dbSNP Id: rs1363320651
gnomAD v2: 6-1610698-C-T
gnomAD v4: 6-1610463-C-T
MyVariant Identifiers: chr6:g.1610698C>T (hg19) chr6:g.1610463C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.18C>T MANE Select ENSP00000493906.1:p.Ser6=
ENST00000380874.3:c.18C>T ENSP00000370256.2:p.Ser6=
NM_001453.2:c.18C>T NP_001444.2:p.Ser6=
NM_001453.3:c.18C>T MANE Select NP_001444.2:p.Ser6=
Search 100 bp 5'
Search 100 bp 3'