Canonical Allele Identifier: CA133392862
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs545386506
gnomAD v3: 6-1613174-C-G
gnomAD v4: 6-1613174-C-G
MyVariant Identifiers: chr6:g.1613409C>G (hg19) chr6:g.1613174C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613174C>G , CM000668.2:g.1613174C>G GRCh38
NC_000006.11:g.1613409C>G , CM000668.1:g.1613409C>G GRCh37
NC_000006.10:g.1558408C>G NCBI36
NG_009368.1:g.7729C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1067C>G MANE Select ENSP00000493906.1:n.*1067C>G
ENST00000380874.3:c.*1067C>G ENSP00000370256.2:n.*1067C>G
NM_001453.2:c.2729C>G NP_001444.2:n.2729C>G
NM_001453.3:c.*1067C>G MANE Select NP_001444.2:n.*1067C>G
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