Canonical Allele Identifier: CA133392878
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs942608051
gnomAD v2: 6-1613449-A-G
gnomAD v3: 6-1613214-A-G
gnomAD v4: 6-1613214-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1613214A>G , CM000668.2:g.1613214A>G GRCh38
NC_000006.11:g.1613449A>G , CM000668.1:g.1613449A>G GRCh37
NC_000006.10:g.1558448A>G NCBI36
NG_009368.1:g.7769A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.*1107A>G MANE Select ENSP00000493906.1:n.*1107A>G
ENST00000380874.3:c.*1107A>G ENSP00000370256.2:n.*1107A>G
NM_001453.2:c.2769A>G NP_001444.2:n.2769A>G
NM_001453.3:c.*1107A>G MANE Select NP_001444.2:n.*1107A>G