Canonical Allele Identifier: CA362557996
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1381453628
gnomAD v2: 6-1610744-G-A
gnomAD v4: 6-1610509-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610509G>A , CM000668.2:g.1610509G>A GRCh38
NC_000006.11:g.1610744G>A , CM000668.1:g.1610744G>A GRCh37
NC_000006.10:g.1555743G>A NCBI36
NG_009368.1:g.5064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.64G>A MANE Select ENSP00000493906.1:p.Glu22Lys
ENST00000380874.3:c.64G>A ENSP00000370256.2:p.Glu22Lys
NM_001453.2:c.64G>A NP_001444.2:p.Glu22Lys
NM_001453.3:c.64G>A MANE Select NP_001444.2:p.Glu22Lys