Canonical Allele Identifier: CA448393374
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1200902431
gnomAD v2: 6-1610797-C-T
gnomAD v3: 6-1610562-C-T
gnomAD v4: 6-1610562-C-T
MyVariant Identifiers: chr6:g.1610797C>T (hg19) chr6:g.1610562C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610562C>T , CM000668.2:g.1610562C>T GRCh38
NC_000006.11:g.1610797C>T , CM000668.1:g.1610797C>T GRCh37
NC_000006.10:g.1555796C>T NCBI36
NG_009368.1:g.5117C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.117C>T MANE Select ENSP00000493906.1:p.Ala39=
ENST00000380874.3:c.117C>T ENSP00000370256.2:p.Ala39=
NM_001453.2:c.117C>T NP_001444.2:p.Ala39=
NM_001453.3:c.117C>T MANE Select NP_001444.2:p.Ala39=
Search 100 bp 5'
Search 100 bp 3'