Canonical Allele Identifier: CA119639
Gene: FOXC1 HGNC NCBI
ClinVar RCV:
RCV000008978
ClinVar Variation:
8458
dbSNP:
104893953
gnomAD v2:
6:1610925 G / C
gnomAD v4:
chr6-1610690-G-C
MyVariant.info:
GRCh38 chr6:g.1610690G>C
GRCh37 chr6:g.1610925G>C
Revel Score:
ENST00000541209 0.944
ENST00000380874 0.944
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610690G>C , CM000668.2:g.1610690G>C GRCh38
NC_000006.11:g.1610925G>C , CM000668.1:g.1610925G>C GRCh37
NC_000006.10:g.1555924G>C NCBI36
NG_009368.1:g.5245G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.245G>C MANE Select ENSP00000493906.1:p.Ser82Thr
ENST00000380874.3:c.245G>C ENSP00000370256.2:p.Ser82Thr
NM_001453.2:c.245G>C NP_001444.2:p.Ser82Thr
NM_001453.3:c.245G>C MANE Select NP_001444.2:p.Ser82Thr
Search 100 bp 5'
Search 100 bp 3'