Canonical Allele Identifier: CA362557885
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1302205366
gnomAD v2: 6-1610691-G-A
gnomAD v4: 6-1610456-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610456G>A , CM000668.2:g.1610456G>A GRCh38
NC_000006.11:g.1610691G>A , CM000668.1:g.1610691G>A GRCh37
NC_000006.10:g.1555690G>A NCBI36
NG_009368.1:g.5011G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.11G>A MANE Select ENSP00000493906.1:p.Arg4His
ENST00000380874.3:c.11G>A ENSP00000370256.2:p.Arg4His
NM_001453.2:c.11G>A NP_001444.2:p.Arg4His
NM_001453.3:c.11G>A MANE Select NP_001444.2:p.Arg4His