Canonical Allele Identifier: CA10588415
Gene: FOXC1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

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