Canonical Allele Identifier: CA1085284958
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762578848
gnomAD v3: 6-1612767-C-T
gnomAD v4: 6-1612767-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612767C>T , CM000668.2:g.1612767C>T GRCh38
NC_000006.11:g.1613002C>T , CM000668.1:g.1613002C>T GRCh37
NC_000006.10:g.1558001C>T NCBI36
NG_009368.1:g.7322C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*660C>T MANE Select ENSP00000493906.1:n.*660C>T
ENST00000380874.3:c.*660C>T ENSP00000370256.2:n.*660C>T
NM_001453.2:c.2322C>T NP_001444.2:n.2322C>T
NM_001453.3:c.*660C>T MANE Select NP_001444.2:n.*660C>T