Canonical Allele Identifier: CA133392485
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs977543159
gnomAD v3: 6-1612854-G-A
gnomAD v4: 6-1612854-G-A
MyVariant Identifiers: chr6:g.1613089G>A (hg19) chr6:g.1612854G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612854G>A , CM000668.2:g.1612854G>A GRCh38
NC_000006.11:g.1613089G>A , CM000668.1:g.1613089G>A GRCh37
NC_000006.10:g.1558088G>A NCBI36
NG_009368.1:g.7409G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.*747G>A MANE Select ENSP00000493906.1:n.*747G>A
ENST00000380874.3:c.*747G>A ENSP00000370256.2:n.*747G>A
NM_001453.2:c.2409G>A NP_001444.2:n.2409G>A
NM_001453.3:c.*747G>A MANE Select NP_001444.2:n.*747G>A
Search 100 bp 5'
Search 100 bp 3'