Canonical Allele Identifier: CA821650009

Gene: FOXC1

Linked Data

• dbSNP Id: rs1172538167
• gnomAD v3: 6-1612540-GGAAAGTCCCCGTTTAT-G
• gnomAD v4: 6-1612540-GGAAAGTCCCCGTTTAT-G
• MyVariant Identifiers: chr6:g.1612776_1612791del (hg19) ; chr6:g.1612541_1612556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1612548_1612563del , CM000668.2:g.1612548_1612563del	GRCh38
NC_000006.11:g.1612783_1612798del , CM000668.1:g.1612783_1612798del	GRCh37
NC_000006.10:g.1557782_1557797del	NCBI36
NG_009368.1:g.7103_7118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.*441_*456del MANE Select	ENSP00000493906.1:n.*441_*456del
ENST00000380874.3:c.*441_*456del	ENSP00000370256.2:n.*441_*456del
NM_001453.2:c.2103_2118del	NP_001444.2:n.2103_2118del
NM_001453.3:c.*441_*456del MANE Select	NP_001444.2:n.*441_*456del