Canonical Allele Identifier: CA565018293
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1268814441
gnomAD v2: 6-1613061-G-A
gnomAD v3: 6-1612826-G-A
gnomAD v4: 6-1612826-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612826G>A , CM000668.2:g.1612826G>A GRCh38
NC_000006.11:g.1613061G>A , CM000668.1:g.1613061G>A GRCh37
NC_000006.10:g.1558060G>A NCBI36
NG_009368.1:g.7381G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*719G>A MANE Select ENSP00000493906.1:n.*719G>A
ENST00000380874.3:c.*719G>A ENSP00000370256.2:n.*719G>A
NM_001453.2:c.2381G>A NP_001444.2:n.2381G>A
NM_001453.3:c.*719G>A MANE Select NP_001444.2:n.*719G>A