Canonical Allele Identifier: CA362558711

Gene: FOXC1

Linked Data

• MyVariant Identifiers: chr6:g.1611069T>A (hg19) ; chr6:g.1610834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610834T>A , CM000668.2:g.1610834T>A	GRCh38
NC_000006.11:g.1611069T>A , CM000668.1:g.1611069T>A	GRCh37
NC_000006.10:g.1556068T>A	NCBI36
NG_009368.1:g.5389T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.389T>A MANE Select	ENSP00000493906.1:p.Leu130His
ENST00000380874.3:c.389T>A	ENSP00000370256.2:p.Leu130His
NM_001453.2:c.389T>A	NP_001444.2:p.Leu130His
NM_001453.3:c.389T>A MANE Select	NP_001444.2:p.Leu130His