Canonical Allele Identifier: CA119646

Gene: FOXF1

Linked Data

• ClinVar Variation Id: 8462
• ClinVar RCV Id: RCV000008983
• dbSNP Id: rs121909336
• COSMIC: COSM4924199 ; COSM4924200
• MyVariant Identifiers: chr16:g.86544400C>A (hg19) ; chr16:g.86510794C>A (hg38)
• PubMed: PMID:15520767 ; PMID:19500772

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.86510794C>A , CM000678.2:g.86510794C>A	GRCh38
NC_000016.9:g.86544400C>A , CM000678.1:g.86544400C>A	GRCh37
NC_000016.8:g.85101901C>A	NCBI36
NG_016273.1:g.5268C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262426.6:c.225C>A MANE Select	ENSP00000262426.4:p.Tyr75Ter
ENST00000262426.5:c.225C>A	ENSP00000262426.4:p.Tyr75Ter
NM_001451.2:c.225C>A	NP_001442.2:p.Tyr75Ter
NM_001451.3:c.225C>A MANE Select	NP_001442.2:p.Tyr75Ter