Canonical Allele Identifier: CA821650125
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1268534128
gnomAD v3: 6-1612785-C-A
gnomAD v4: 6-1612785-C-A
MyVariant Identifiers: chr6:g.1613020C>A (hg19) chr6:g.1612785C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612785C>A , CM000668.2:g.1612785C>A GRCh38
NC_000006.11:g.1613020C>A , CM000668.1:g.1613020C>A GRCh37
NC_000006.10:g.1558019C>A NCBI36
NG_009368.1:g.7340C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*678C>A MANE Select ENSP00000493906.1:n.*678C>A
ENST00000380874.3:c.*678C>A ENSP00000370256.2:n.*678C>A
NM_001453.2:c.2340C>A NP_001444.2:n.2340C>A
NM_001453.3:c.*678C>A MANE Select NP_001444.2:n.*678C>A
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