Canonical Allele Identifier: CA3614793
Gene: FOXC1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611042C>G , CM000668.2:g.1611042C>G GRCh38
NC_000006.11:g.1611277C>G , CM000668.1:g.1611277C>G GRCh37
NC_000006.10:g.1556276C>G NCBI36
NG_009368.1:g.5597C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.597C>G MANE Select ENSP00000493906.1:p.Arg199=
ENST00000380874.3:c.597C>G ENSP00000370256.2:p.Arg199=
NM_001453.2:c.597C>G NP_001444.2:p.Arg199=
NM_001453.3:c.597C>G MANE Select NP_001444.2:p.Arg199=