Canonical Allele Identifier: CA1085282309
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v3: 6-1610016-C-CG
gnomAD v4: 6-1610016-C-CG

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610016_1610017insG , CM000668.2:g.1610016_1610017insG GRCh38
NC_000006.11:g.1610251_1610252insG , CM000668.1:g.1610251_1610252insG GRCh37
NC_000006.10:g.1555250_1555251insG NCBI36
NG_009368.1:g.4571_4572insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-430_-429insG MANE Select ENSP00000493906.1:n.-430_-429insG
ENST00000380874.3:c.-430_-429insG ENSP00000370256.2:n.-430_-429insG
NM_001453.3:c.-430_-429insG MANE Select NP_001444.2:n.-430_-429insG