Canonical Allele Identifier: CA16044263
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375424
dbSNP Id: rs1057519475

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610761C>T , CM000668.2:g.1610761C>T GRCh38
NC_000006.11:g.1610996C>T , CM000668.1:g.1610996C>T GRCh37
NC_000006.10:g.1555995C>T NCBI36
NG_009368.1:g.5316C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.316C>T MANE Select ENSP00000493906.1:p.Gln106Ter
ENST00000380874.3:c.316C>T ENSP00000370256.2:p.Gln106Ter
NM_001453.2:c.316C>T NP_001444.2:p.Gln106Ter
NM_001453.3:c.316C>T MANE Select NP_001444.2:p.Gln106Ter