Canonical Allele Identifier: CA133392199
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1017118005
gnomAD v2: 6-1612714-C-T
gnomAD v3: 6-1612479-C-T
gnomAD v4: 6-1612479-C-T
MyVariant Identifiers: chr6:g.1612714C>T (hg19) chr6:g.1612479C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612479C>T , CM000668.2:g.1612479C>T GRCh38
NC_000006.11:g.1612714C>T , CM000668.1:g.1612714C>T GRCh37
NC_000006.10:g.1557713C>T NCBI36
NG_009368.1:g.7034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*372C>T MANE Select ENSP00000493906.1:n.*372C>T
ENST00000380874.3:c.*372C>T ENSP00000370256.2:n.*372C>T
NM_001453.2:c.2034C>T NP_001444.2:n.2034C>T
NM_001453.3:c.*372C>T MANE Select NP_001444.2:n.*372C>T
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