Canonical Allele Identifier: CA133392221
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs962887422
gnomAD v2: 6-1612719-C-G
gnomAD v3: 6-1612484-C-G
gnomAD v4: 6-1612484-C-G
MyVariant Identifiers: chr6:g.1612719C>G (hg19) chr6:g.1612484C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612484C>G , CM000668.2:g.1612484C>G GRCh38
NC_000006.11:g.1612719C>G , CM000668.1:g.1612719C>G GRCh37
NC_000006.10:g.1557718C>G NCBI36
NG_009368.1:g.7039C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*377C>G MANE Select ENSP00000493906.1:n.*377C>G
ENST00000380874.3:c.*377C>G ENSP00000370256.2:n.*377C>G
NM_001453.2:c.2039C>G NP_001444.2:n.2039C>G
NM_001453.3:c.*377C>G MANE Select NP_001444.2:n.*377C>G
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