Canonical Allele Identifier: CA133392388
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1006985237
gnomAD v2: 6-1612917-T-C
gnomAD v3: 6-1612682-T-C
gnomAD v4: 6-1612682-T-C
MyVariant Identifiers: chr6:g.1612917T>C (hg19) chr6:g.1612682T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612682T>C , CM000668.2:g.1612682T>C GRCh38
NC_000006.11:g.1612917T>C , CM000668.1:g.1612917T>C GRCh37
NC_000006.10:g.1557916T>C NCBI36
NG_009368.1:g.7237T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*575T>C MANE Select ENSP00000493906.1:n.*575T>C
ENST00000380874.3:c.*575T>C ENSP00000370256.2:n.*575T>C
NM_001453.2:c.2237T>C NP_001444.2:n.2237T>C
NM_001453.3:c.*575T>C MANE Select NP_001444.2:n.*575T>C
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