Canonical Allele Identifier: CA362558214
Gene: FOXC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2061918
ClinVar RCV Id: RCV002923450

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610608C>T , CM000668.2:g.1610608C>T GRCh38
NC_000006.11:g.1610843C>T , CM000668.1:g.1610843C>T GRCh37
NC_000006.10:g.1555842C>T NCBI36
NG_009368.1:g.5163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645831.2:c.163C>T MANE Select ENSP00000493906.1:p.Gln55Ter
ENST00000380874.3:c.163C>T ENSP00000370256.2:p.Gln55Ter
NM_001453.2:c.163C>T NP_001444.2:p.Gln55Ter
NM_001453.3:c.163C>T MANE Select NP_001444.2:p.Gln55Ter