Canonical Allele Identifier: CA565356175

Gene: FOXC1

Linked Data

• dbSNP Id: rs1389842508
• gnomAD v2: 6-1610618-G-GCGGCC
• gnomAD v3: 6-1610383-G-GCGGCC
• gnomAD v4: 6-1610383-G-GCGGCC
• MyVariant Identifiers: chr6:g.1610618_1610619insCGGCC (hg19) ; chr6:g.1610383_1610384insCGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.1610391_1610395dup , CM000668.2:g.1610391_1610395dup	GRCh38
NC_000006.11:g.1610626_1610630dup , CM000668.1:g.1610626_1610630dup	GRCh37
NC_000006.10:g.1555625_1555629dup	NCBI36
NG_009368.1:g.4946_4950dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645831.2:c.-55_-51dup MANE Select	ENSP00000493906.1:n.-55_-51dup
ENST00000380874.3:c.-55_-51dup	ENSP00000370256.2:n.-55_-51dup
NM_001453.3:c.-55_-51dup MANE Select	NP_001444.2:n.-55_-51dup