Canonical Allele Identifier: CA133392265
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs987612826
gnomAD v2: 6-1612757-C-G
gnomAD v3: 6-1612522-C-G
gnomAD v4: 6-1612522-C-G
MyVariant Identifiers: chr6:g.1612757C>G (hg19) chr6:g.1612522C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612522C>G , CM000668.2:g.1612522C>G GRCh38
NC_000006.11:g.1612757C>G , CM000668.1:g.1612757C>G GRCh37
NC_000006.10:g.1557756C>G NCBI36
NG_009368.1:g.7077C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*415C>G MANE Select ENSP00000493906.1:n.*415C>G
ENST00000380874.3:c.*415C>G ENSP00000370256.2:n.*415C>G
NM_001453.2:c.2077C>G NP_001444.2:n.2077C>G
NM_001453.3:c.*415C>G MANE Select NP_001444.2:n.*415C>G
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