Canonical Allele Identifier: CA362558195
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994890
ClinVar RCV Id: RCV003858513
dbSNP Id: rs1448805039
gnomAD v2: 6-1610835-A-G
gnomAD v4: 6-1610600-A-G
MyVariant Identifiers: chr6:g.1610835A>G (hg19) chr6:g.1610600A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610600A>G , CM000668.2:g.1610600A>G GRCh38
NC_000006.11:g.1610835A>G , CM000668.1:g.1610835A>G GRCh37
NC_000006.10:g.1555834A>G NCBI36
NG_009368.1:g.5155A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.155A>G MANE Select ENSP00000493906.1:p.His52Arg
ENST00000380874.3:c.155A>G ENSP00000370256.2:p.His52Arg
NM_001453.2:c.155A>G NP_001444.2:p.His52Arg
NM_001453.3:c.155A>G MANE Select NP_001444.2:p.His52Arg
Search 100 bp 5'
Search 100 bp 3'