Canonical Allele Identifier: CA133388833
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs970334021
gnomAD v2: 6-1610485-G-A
gnomAD v3: 6-1610250-G-A
gnomAD v4: 6-1610250-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610250G>A , CM000668.2:g.1610250G>A GRCh38
NC_000006.11:g.1610485G>A , CM000668.1:g.1610485G>A GRCh37
NC_000006.10:g.1555484G>A NCBI36
NG_009368.1:g.4805G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-196G>A MANE Select ENSP00000493906.1:n.-196G>A
ENST00000380874.3:c.-196G>A ENSP00000370256.2:n.-196G>A
NM_001453.3:c.-196G>A MANE Select NP_001444.2:n.-196G>A