Canonical Allele Identifier: CA133392786
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs140591342
gnomAD v2: 6-1613361-C-G
gnomAD v3: 6-1613126-C-G
gnomAD v4: 6-1613126-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613126C>G , CM000668.2:g.1613126C>G GRCh38
NC_000006.11:g.1613361C>G , CM000668.1:g.1613361C>G GRCh37
NC_000006.10:g.1558360C>G NCBI36
NG_009368.1:g.7681C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1019C>G MANE Select ENSP00000493906.1:n.*1019C>G
ENST00000380874.3:c.*1019C>G ENSP00000370256.2:n.*1019C>G
NM_001453.2:c.2681C>G NP_001444.2:n.2681C>G
NM_001453.3:c.*1019C>G MANE Select NP_001444.2:n.*1019C>G