Canonical Allele Identifier: CA821649978
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs757677458
gnomAD v3: 6-1612483-C-T
gnomAD v4: 6-1612483-C-T
MyVariant Identifiers: chr6:g.1612718C>T (hg19) chr6:g.1612483C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612483C>T , CM000668.2:g.1612483C>T GRCh38
NC_000006.11:g.1612718C>T , CM000668.1:g.1612718C>T GRCh37
NC_000006.10:g.1557717C>T NCBI36
NG_009368.1:g.7038C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*376C>T MANE Select ENSP00000493906.1:n.*376C>T
ENST00000380874.3:c.*376C>T ENSP00000370256.2:n.*376C>T
NM_001453.2:c.2038C>T NP_001444.2:n.2038C>T
NM_001453.3:c.*376C>T MANE Select NP_001444.2:n.*376C>T
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