Canonical Allele Identifier: CA362558392
Gene: FOXC1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610691C>A , CM000668.2:g.1610691C>A GRCh38
NC_000006.11:g.1610926C>A , CM000668.1:g.1610926C>A GRCh37
NC_000006.10:g.1555925C>A NCBI36
NG_009368.1:g.5246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.246C>A MANE Select ENSP00000493906.1:p.Ser82Arg
ENST00000380874.3:c.246C>A ENSP00000370256.2:p.Ser82Arg
NM_001453.2:c.246C>A NP_001444.2:p.Ser82Arg
NM_001453.3:c.246C>A MANE Select NP_001444.2:p.Ser82Arg