Canonical Allele Identifier: CA448166384
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1202781854
gnomAD v2: 6-1610367-C-CT
gnomAD v3: 6-1610132-C-CT
gnomAD v4: 6-1610132-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610133dup , CM000668.2:g.1610133dup GRCh38
NC_000006.11:g.1610368dup , CM000668.1:g.1610368dup GRCh37
NC_000006.10:g.1555367dup NCBI36
NG_009368.1:g.4688dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-313dup MANE Select ENSP00000493906.1:n.-313dup
ENST00000380874.3:c.-313dup ENSP00000370256.2:n.-313dup
NM_001453.3:c.-313dup MANE Select NP_001444.2:n.-313dup