Canonical Allele Identifier: CA133392383
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676337
ClinVar RCV Id: RCV002221719
dbSNP Id: rs77607008
gnomAD v2: 6-1612889-G-A
gnomAD v3: 6-1612654-G-A
gnomAD v4: 6-1612654-G-A
MyVariant Identifiers: chr6:g.1612889G>A (hg19) chr6:g.1612654G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612654G>A , CM000668.2:g.1612654G>A GRCh38
NC_000006.11:g.1612889G>A , CM000668.1:g.1612889G>A GRCh37
NC_000006.10:g.1557888G>A NCBI36
NG_009368.1:g.7209G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*547G>A MANE Select ENSP00000493906.1:n.*547G>A
ENST00000380874.3:c.*547G>A ENSP00000370256.2:n.*547G>A
NM_001453.2:c.2209G>A NP_001444.2:n.2209G>A
NM_001453.3:c.*547G>A MANE Select NP_001444.2:n.*547G>A
Search 100 bp 5'
Search 100 bp 3'