Canonical Allele Identifier: CA1085284876
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1762576732
gnomAD v3: 6-1612633-G-A
gnomAD v4: 6-1612633-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612633G>A , CM000668.2:g.1612633G>A GRCh38
NC_000006.11:g.1612868G>A , CM000668.1:g.1612868G>A GRCh37
NC_000006.10:g.1557867G>A NCBI36
NG_009368.1:g.7188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*526G>A MANE Select ENSP00000493906.1:n.*526G>A
ENST00000380874.3:c.*526G>A ENSP00000370256.2:n.*526G>A
NM_001453.2:c.2188G>A NP_001444.2:n.2188G>A
NM_001453.3:c.*526G>A MANE Select NP_001444.2:n.*526G>A