Canonical Allele Identifier: CA362558182
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2161709
ClinVar RCV Id: RCV003078710 RCV003481389
dbSNP Id: rs1451752406
gnomAD v2: 6-1610828-C-T
gnomAD v4: 6-1610593-C-T
MyVariant Identifiers: chr6:g.1610828C>T (hg19) chr6:g.1610593C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610593C>T , CM000668.2:g.1610593C>T GRCh38
NC_000006.11:g.1610828C>T , CM000668.1:g.1610828C>T GRCh37
NC_000006.10:g.1555827C>T NCBI36
NG_009368.1:g.5148C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.148C>T MANE Select ENSP00000493906.1:p.Pro50Ser
ENST00000380874.3:c.148C>T ENSP00000370256.2:p.Pro50Ser
NM_001453.2:c.148C>T NP_001444.2:p.Pro50Ser
NM_001453.3:c.148C>T MANE Select NP_001444.2:p.Pro50Ser
Search 100 bp 5'
Search 100 bp 3'