Canonical Allele Identifier: CA448394274
Gene: FOXC1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611805_1611813del , CM000668.2:g.1611805_1611813del GRCh38
NC_000006.11:g.1612040_1612048del , CM000668.1:g.1612040_1612048del GRCh37
NC_000006.10:g.1557039_1557047del NCBI36
NG_009368.1:g.6360_6368del

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.1360_1368del MANE Select ENSP00000493906.1:p.Gly454_Gly456del
ENST00000380874.3:c.1360_1368del ENSP00000370256.2:p.Gly454_Gly456del
NM_001453.2:c.1360_1368del NP_001444.2:p.Gly454_Gly456del
NM_001453.3:c.1360_1368del MANE Select NP_001444.2:p.Gly454_Gly456del