Canonical Allele Identifier: CA1085284965
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762578925
gnomAD v3: 6-1612781-T-C
gnomAD v4: 6-1612781-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612781T>C , CM000668.2:g.1612781T>C GRCh38
NC_000006.11:g.1613016T>C , CM000668.1:g.1613016T>C GRCh37
NC_000006.10:g.1558015T>C NCBI36
NG_009368.1:g.7336T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*674T>C MANE Select ENSP00000493906.1:n.*674T>C
ENST00000380874.3:c.*674T>C ENSP00000370256.2:n.*674T>C
NM_001453.2:c.2336T>C NP_001444.2:n.2336T>C
NM_001453.3:c.*674T>C MANE Select NP_001444.2:n.*674T>C