Canonical Allele Identifier: CA133392874
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs190526847
gnomAD v2: 6-1613434-C-A
gnomAD v3: 6-1613199-C-A
gnomAD v4: 6-1613199-C-A
MyVariant Identifiers: chr6:g.1613434C>A (hg19) chr6:g.1613199C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613199C>A , CM000668.2:g.1613199C>A GRCh38
NC_000006.11:g.1613434C>A , CM000668.1:g.1613434C>A GRCh37
NC_000006.10:g.1558433C>A NCBI36
NG_009368.1:g.7754C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1092C>A MANE Select ENSP00000493906.1:n.*1092C>A
ENST00000380874.3:c.*1092C>A ENSP00000370256.2:n.*1092C>A
NM_001453.2:c.2754C>A NP_001444.2:n.2754C>A
NM_001453.3:c.*1092C>A MANE Select NP_001444.2:n.*1092C>A
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