Canonical Allele Identifier: CA448393518
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs374448293
gnomAD v2: 6-1610839-C-A
gnomAD v4: 6-1610604-C-A
MyVariant Identifiers: chr6:g.1610839C>A (hg19) chr6:g.1610604C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610604C>A , CM000668.2:g.1610604C>A GRCh38
NC_000006.11:g.1610839C>A , CM000668.1:g.1610839C>A GRCh37
NC_000006.10:g.1555838C>A NCBI36
NG_009368.1:g.5159C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.159C>A MANE Select ENSP00000493906.1:p.Ala53=
ENST00000380874.3:c.159C>A ENSP00000370256.2:p.Ala53=
NM_001453.2:c.159C>A NP_001444.2:p.Ala53=
NM_001453.3:c.159C>A MANE Select NP_001444.2:p.Ala53=
Search 100 bp 5'
Search 100 bp 3'