Canonical Allele Identifier: CA362558789
Gene: FOXC1 HGNC NCBI

Linked Data

gnomAD v4: 6-1610871-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610871C>A , CM000668.2:g.1610871C>A GRCh38
NC_000006.11:g.1611106C>A , CM000668.1:g.1611106C>A GRCh37
NC_000006.10:g.1556105C>A NCBI36
NG_009368.1:g.5426C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.426C>A MANE Select ENSP00000493906.1:p.Asp142Glu
ENST00000380874.3:c.426C>A ENSP00000370256.2:p.Asp142Glu
NM_001453.2:c.426C>A NP_001444.2:p.Asp142Glu
NM_001453.3:c.426C>A MANE Select NP_001444.2:p.Asp142Glu