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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA119646
Gene: FOXF1
HGNC
NCBI
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
JSON-LD
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
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