Canonical Allele Identifier: CA565356226

Gene: FOXC1

Linked Data

• dbSNP Id: rs1762559191
• gnomAD v2: 6-1612039-C-CGGG
• gnomAD v4: 6-1611804-C-CGGG
• MyVariant Identifiers: chr6:g.1612039_1612040insGGG (hg19) ; chr6:g.1611804_1611805insGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1611807_1611809dup , CM000668.2:g.1611807_1611809dup	GRCh38
NC_000006.11:g.1612042_1612044dup , CM000668.1:g.1612042_1612044dup	GRCh37
NC_000006.10:g.1557041_1557043dup	NCBI36
NG_009368.1:g.6362_6364dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.1362_1364dup MANE Select	ENSP00000493906.1:p.Gly455_Gly456insGly
ENST00000380874.3:c.1362_1364dup	ENSP00000370256.2:p.Gly455_Gly456insGly
NM_001453.2:c.1362_1364dup	NP_001444.2:p.Gly455_Gly456insGly
NM_001453.3:c.1362_1364dup MANE Select	NP_001444.2:p.Gly455_Gly456insGly