Canonical Allele Identifier: CA133388592
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs868744257
gnomAD v2: 6-1610258-C-G
gnomAD v3: 6-1610023-C-G
gnomAD v4: 6-1610023-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610023C>G , CM000668.2:g.1610023C>G GRCh38
NC_000006.11:g.1610258C>G , CM000668.1:g.1610258C>G GRCh37
NC_000006.10:g.1555257C>G NCBI36
NG_009368.1:g.4578C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-423C>G MANE Select ENSP00000493906.1:n.-423C>G
ENST00000380874.3:c.-423C>G ENSP00000370256.2:n.-423C>G
NM_001453.3:c.-423C>G MANE Select NP_001444.2:n.-423C>G