Canonical Allele Identifier: CA565018197
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1013874390
gnomAD v2: 6-1610263-C-T
gnomAD v3: 6-1610028-C-T
gnomAD v4: 6-1610028-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610028C>T , CM000668.2:g.1610028C>T GRCh38
NC_000006.11:g.1610263C>T , CM000668.1:g.1610263C>T GRCh37
NC_000006.10:g.1555262C>T NCBI36
NG_009368.1:g.4583C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-418C>T MANE Select ENSP00000493906.1:n.-418C>T
ENST00000380874.3:c.-418C>T ENSP00000370256.2:n.-418C>T
NM_001453.3:c.-418C>T MANE Select NP_001444.2:n.-418C>T