Canonical Allele Identifier: CA3614742
Gene: FOXC1 HGNC NCBI

Linked Data

dbSNP Id: rs104893951
gnomAD v2: 6-1611015-T-A
gnomAD v3: 6-1610780-T-A
gnomAD v4: 6-1610780-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.1610780T>A , CM000668.2:g.1610780T>A GRCh38
NC_000006.11:g.1611015T>A , CM000668.1:g.1611015T>A GRCh37
NC_000006.10:g.1556014T>A NCBI36
NG_009368.1:g.5335T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645831.2:c.335T>A MANE Select ENSP00000493906.1:p.Phe112Tyr
ENST00000380874.3:c.335T>A ENSP00000370256.2:p.Phe112Tyr
NM_001453.2:c.335T>A NP_001444.2:p.Phe112Tyr
NM_001453.3:c.335T>A MANE Select NP_001444.2:p.Phe112Tyr