Canonical Allele Identifier: CA3614723

Gene: FOXC1

Linked Data

• dbSNP Id: rs749585793
• ExAC: 6:1610898 CCAAGGACATGGT / C
• gnomAD v2: 6-1610898-CCAAGGACATGGT-C
• gnomAD v4: 6-1610663-CCAAGGACATGGT-C
• MyVariant Identifiers: chr6:g.1610899_1610910del (hg19) ; chr6:g.1610664_1610675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610664_1610675del , CM000668.2:g.1610664_1610675del	GRCh38
NC_000006.11:g.1610899_1610910del , CM000668.1:g.1610899_1610910del	GRCh37
NC_000006.10:g.1555898_1555909del	NCBI36
NG_009368.1:g.5219_5230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.219_230del MANE Select	ENSP00000493906.1:p.Lys74_Val77del
ENST00000380874.3:c.219_230del	ENSP00000370256.2:p.Lys74_Val77del
NM_001453.2:c.219_230del	NP_001444.2:p.Lys74_Val77del
NM_001453.3:c.219_230del MANE Select	NP_001444.2:p.Lys74_Val77del