Canonical Allele Identifier: CA448393296

Gene: FOXC1

Linked Data

• dbSNP Id: rs1323993525
• gnomAD v2: 6-1610764-G-A
• gnomAD v4: 6-1610529-G-A
• MyVariant Identifiers: chr6:g.1610764G>A (hg19) ; chr6:g.1610529G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610529G>A , CM000668.2:g.1610529G>A	GRCh38
NC_000006.11:g.1610764G>A , CM000668.1:g.1610764G>A	GRCh37
NC_000006.10:g.1555763G>A	NCBI36
NG_009368.1:g.5084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.84G>A MANE Select	ENSP00000493906.1:p.Ala28=
ENST00000380874.3:c.84G>A	ENSP00000370256.2:p.Ala28=
NM_001453.2:c.84G>A	NP_001444.2:p.Ala28=
NM_001453.3:c.84G>A MANE Select	NP_001444.2:p.Ala28=