Canonical Allele Identifier: CA565018180
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1475090844
gnomAD v2: 6-1610256-C-CA
gnomAD v3: 6-1610021-C-CA
gnomAD v4: 6-1610021-C-CA

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610021_1610022insA , CM000668.2:g.1610021_1610022insA GRCh38
NC_000006.11:g.1610256_1610257insA , CM000668.1:g.1610256_1610257insA GRCh37
NC_000006.10:g.1555255_1555256insA NCBI36
NG_009368.1:g.4576_4577insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-425_-424insA MANE Select ENSP00000493906.1:n.-425_-424insA
ENST00000380874.3:c.-425_-424insA ENSP00000370256.2:n.-425_-424insA
NM_001453.3:c.-425_-424insA MANE Select NP_001444.2:n.-425_-424insA