Canonical Allele Identifier: CA448393303
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1439714149
gnomAD v2: 6-1610767-G-A
gnomAD v4: 6-1610532-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610532G>A , CM000668.2:g.1610532G>A GRCh38
NC_000006.11:g.1610767G>A , CM000668.1:g.1610767G>A GRCh37
NC_000006.10:g.1555766G>A NCBI36
NG_009368.1:g.5087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.87G>A MANE Select ENSP00000493906.1:p.Ala29=
ENST00000380874.3:c.87G>A ENSP00000370256.2:p.Ala29=
NM_001453.2:c.87G>A NP_001444.2:p.Ala29=
NM_001453.3:c.87G>A MANE Select NP_001444.2:p.Ala29=