Canonical Allele Identifier: CA565018299
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs1278601164
gnomAD v2: 6-1613201-A-G
gnomAD v3: 6-1612966-A-G
gnomAD v4: 6-1612966-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1612966A>G , CM000668.2:g.1612966A>G GRCh38
NC_000006.11:g.1613201A>G , CM000668.1:g.1613201A>G GRCh37
NC_000006.10:g.1558200A>G NCBI36
NG_009368.1:g.7521A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*859A>G MANE Select ENSP00000493906.1:n.*859A>G
ENST00000380874.3:c.*859A>G ENSP00000370256.2:n.*859A>G
NM_001453.2:c.2521A>G NP_001444.2:n.2521A>G
NM_001453.3:c.*859A>G MANE Select NP_001444.2:n.*859A>G