Canonical Allele Identifier: CA3614722
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 469650
ClinVar RCV Id: RCV000828428 RCV001516981
dbSNP Id: rs200040370
ExAC: 6:1610896 G / A
gnomAD v2: 6-1610896-G-A
gnomAD v3: 6-1610661-G-A
gnomAD v4: 6-1610661-G-A
MyVariant Identifiers: chr6:g.1610896G>A (hg19) chr6:g.1610661G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610661G>A , CM000668.2:g.1610661G>A GRCh38
NC_000006.11:g.1610896G>A , CM000668.1:g.1610896G>A GRCh37
NC_000006.10:g.1555895G>A NCBI36
NG_009368.1:g.5216G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.216G>A MANE Select ENSP00000493906.1:p.Gln72=
ENST00000380874.3:c.216G>A ENSP00000370256.2:p.Gln72=
NM_001453.2:c.216G>A NP_001444.2:p.Gln72=
NM_001453.3:c.216G>A MANE Select NP_001444.2:p.Gln72=
Search 100 bp 5'
Search 100 bp 3'