Canonical Allele Identifier: CA1085284978
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762579394
gnomAD v3: 6-1612794-T-A
gnomAD v4: 6-1612794-T-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612794T>A , CM000668.2:g.1612794T>A GRCh38
NC_000006.11:g.1613029T>A , CM000668.1:g.1613029T>A GRCh37
NC_000006.10:g.1558028T>A NCBI36
NG_009368.1:g.7349T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.*687T>A MANE Select ENSP00000493906.1:n.*687T>A
ENST00000380874.3:c.*687T>A ENSP00000370256.2:n.*687T>A
NM_001453.2:c.2349T>A NP_001444.2:n.2349T>A
NM_001453.3:c.*687T>A MANE Select NP_001444.2:n.*687T>A
Search 100 bp 5'
Search 100 bp 3'