Canonical Allele Identifier: CA821649964
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs959272757
gnomAD v3: 6-1612453-C-T
gnomAD v4: 6-1612453-C-T
MyVariant Identifiers: chr6:g.1612688C>T (hg19) chr6:g.1612453C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612453C>T , CM000668.2:g.1612453C>T GRCh38
NC_000006.11:g.1612688C>T , CM000668.1:g.1612688C>T GRCh37
NC_000006.10:g.1557687C>T NCBI36
NG_009368.1:g.7008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*346C>T MANE Select ENSP00000493906.1:n.*346C>T
ENST00000380874.3:c.*346C>T ENSP00000370256.2:n.*346C>T
NM_001453.2:c.2008C>T NP_001444.2:n.2008C>T
NM_001453.3:c.*346C>T MANE Select NP_001444.2:n.*346C>T
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