Canonical Allele Identifier: CA565018174
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs77888940
gnomAD v2: 6-1610252-C-T
gnomAD v3: 6-1610017-C-T
gnomAD v4: 6-1610017-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610017C>T , CM000668.2:g.1610017C>T GRCh38
NC_000006.11:g.1610252C>T , CM000668.1:g.1610252C>T GRCh37
NC_000006.10:g.1555251C>T NCBI36
NG_009368.1:g.4572C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-429C>T MANE Select ENSP00000493906.1:n.-429C>T
ENST00000380874.3:c.-429C>T ENSP00000370256.2:n.-429C>T
NM_001453.3:c.-429C>T MANE Select NP_001444.2:n.-429C>T