Canonical Allele Identifier: CA235497
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183249
dbSNP Id: rs35717904
gnomAD v2: 6-1613076-A-T
gnomAD v3: 6-1612841-A-T
gnomAD v4: 6-1612841-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612841A>T , CM000668.2:g.1612841A>T GRCh38
NC_000006.11:g.1613076A>T , CM000668.1:g.1613076A>T GRCh37
NC_000006.10:g.1558075A>T NCBI36
NG_009368.1:g.7396A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.*734A>T MANE Select ENSP00000493906.1:n.*734A>T
ENST00000380874.3:c.*734A>T ENSP00000370256.2:n.*734A>T
NM_001453.2:c.2396A>T NP_001444.2:n.2396A>T
NM_001453.3:c.*734A>T MANE Select NP_001444.2:n.*734A>T