Canonical Allele Identifier: CA565018151
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1260427608
gnomAD v2: 6-1610181-C-T
gnomAD v3: 6-1609946-C-T
gnomAD v4: 6-1609946-C-T
MyVariant Identifiers: chr6:g.1610181C>T (hg19) chr6:g.1609946C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1609946C>T , CM000668.2:g.1609946C>T GRCh38
NC_000006.11:g.1610181C>T , CM000668.1:g.1610181C>T GRCh37
NC_000006.10:g.1555180C>T NCBI36
NG_009368.1:g.4501C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.-500C>T MANE Select ENSP00000493906.1:n.-500C>T
NM_001453.3:c.-500C>T MANE Select NP_001444.2:n.-500C>T
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