Canonical Allele Identifier: CA3614797
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs750403536
gnomAD v4: 6-1611072-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1611072C>T , CM000668.2:g.1611072C>T GRCh38
NC_000006.11:g.1611307C>T , CM000668.1:g.1611307C>T GRCh37
NC_000006.10:g.1556306C>T NCBI36
NG_009368.1:g.5627C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.627C>T MANE Select ENSP00000493906.1:p.Ala209=
ENST00000380874.3:c.627C>T ENSP00000370256.2:p.Ala209=
NM_001453.2:c.627C>T NP_001444.2:p.Ala209=
NM_001453.3:c.627C>T MANE Select NP_001444.2:p.Ala209=