Canonical Allele Identifier: CA133392194
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs924667152
gnomAD v3: 6-1612478-T-C
gnomAD v4: 6-1612478-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612478T>C , CM000668.2:g.1612478T>C GRCh38
NC_000006.11:g.1612713T>C , CM000668.1:g.1612713T>C GRCh37
NC_000006.10:g.1557712T>C NCBI36
NG_009368.1:g.7033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*371T>C MANE Select ENSP00000493906.1:n.*371T>C
ENST00000380874.3:c.*371T>C ENSP00000370256.2:n.*371T>C
NM_001453.2:c.2033T>C NP_001444.2:n.2033T>C
NM_001453.3:c.*371T>C MANE Select NP_001444.2:n.*371T>C