Canonical Allele Identifier: CA362559223
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1611067-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611067C>G , CM000668.2:g.1611067C>G GRCh38
NC_000006.11:g.1611302C>G , CM000668.1:g.1611302C>G GRCh37
NC_000006.10:g.1556301C>G NCBI36
NG_009368.1:g.5622C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.622C>G MANE Select ENSP00000493906.1:p.Gln208Glu
ENST00000380874.3:c.622C>G ENSP00000370256.2:p.Gln208Glu
NM_001453.2:c.622C>G NP_001444.2:p.Gln208Glu
NM_001453.3:c.622C>G MANE Select NP_001444.2:p.Gln208Glu