Canonical Allele Identifier: CA362559240
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1611075-C-A
MyVariant Identifiers: chr6:g.1611310C>A (hg19) chr6:g.1611075C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611075C>A , CM000668.2:g.1611075C>A GRCh38
NC_000006.11:g.1611310C>A , CM000668.1:g.1611310C>A GRCh37
NC_000006.10:g.1556309C>A NCBI36
NG_009368.1:g.5630C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.630C>A MANE Select ENSP00000493906.1:p.Asp210Glu
ENST00000380874.3:c.630C>A ENSP00000370256.2:p.Asp210Glu
NM_001453.2:c.630C>A NP_001444.2:p.Asp210Glu
NM_001453.3:c.630C>A MANE Select NP_001444.2:p.Asp210Glu
Search 100 bp 5'
Search 100 bp 3'