Canonical Allele Identifier: CA448393585
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1610838-G-A
MyVariant Identifiers: chr6:g.1611073G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610838G>A , CM000668.2:g.1610838G>A GRCh38
NC_000006.11:g.1611073G>A , CM000668.1:g.1611073G>A GRCh37
NC_000006.10:g.1556072G>A NCBI36
NG_009368.1:g.5393G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.393G>A MANE Select ENSP00000493906.1:p.Ser131=
ENST00000380874.3:c.393G>A ENSP00000370256.2:p.Ser131=
NM_001453.2:c.393G>A NP_001444.2:p.Ser131=
NM_001453.3:c.393G>A MANE Select NP_001444.2:p.Ser131=