Canonical Allele Identifier: CA180044
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167085
ClinVar RCV Id: RCV000153257 RCV000558293 RCV001528073
dbSNP Id: rs2230096
ExAC: 6:1611085 C / T
gnomAD v2: 6-1611085-C-T
gnomAD v3: 6-1610850-C-T
gnomAD v4: 6-1610850-C-T
MyVariant Identifiers: chr6:g.1611085C>T (hg19) chr6:g.1610850C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610850C>T , CM000668.2:g.1610850C>T GRCh38
NC_000006.11:g.1611085C>T , CM000668.1:g.1611085C>T GRCh37
NC_000006.10:g.1556084C>T NCBI36
NG_009368.1:g.5405C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.405C>T MANE Select ENSP00000493906.1:p.Cys135=
ENST00000380874.3:c.405C>T ENSP00000370256.2:p.Cys135=
NM_001453.2:c.405C>T NP_001444.2:p.Cys135=
NM_001453.3:c.405C>T MANE Select NP_001444.2:p.Cys135=
Search 100 bp 5'
Search 100 bp 3'