Canonical Allele Identifier: CA448393512
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs750403536
gnomAD v4: 6-1611072-C-A
MyVariant Identifiers: chr6:g.1611307C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611072C>A , CM000668.2:g.1611072C>A GRCh38
NC_000006.11:g.1611307C>A , CM000668.1:g.1611307C>A GRCh37
NC_000006.10:g.1556306C>A NCBI36
NG_009368.1:g.5627C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.627C>A MANE Select ENSP00000493906.1:p.Ala209=
ENST00000380874.3:c.627C>A ENSP00000370256.2:p.Ala209=
NM_001453.2:c.627C>A NP_001444.2:p.Ala209=
NM_001453.3:c.627C>A MANE Select NP_001444.2:p.Ala209=
Search 100 bp 5'
Search 100 bp 3'