Canonical Allele Identifier: CA362557909
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1610467-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610467T>C , CM000668.2:g.1610467T>C GRCh38
NC_000006.11:g.1610702T>C , CM000668.1:g.1610702T>C GRCh37
NC_000006.10:g.1555701T>C NCBI36
NG_009368.1:g.5022T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.22T>C MANE Select ENSP00000493906.1:p.Ser8Pro
ENST00000380874.3:c.22T>C ENSP00000370256.2:p.Ser8Pro
NM_001453.2:c.22T>C NP_001444.2:p.Ser8Pro
NM_001453.3:c.22T>C MANE Select NP_001444.2:p.Ser8Pro