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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:
CA397005302
Gene: FOXF1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr16:g.86544309G>A (hg19)
chr16:g.86510703G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86510703G>A , CM000678.2:g.86510703G>A
GRCh38
NC_000016.9:g.86544309G>A , CM000678.1:g.86544309G>A
GRCh37
NC_000016.8:g.85101810G>A
NCBI36
NG_016273.1:g.5177G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000262426.6:c.134G>A
MANE Select
ENSP00000262426.4:p.Arg45His
ENST00000262426.5:c.134G>A
ENSP00000262426.4:p.Arg45His
NM_001451.2:c.134G>A
NP_001442.2:p.Arg45His
NM_001451.3:c.134G>A
MANE Select
NP_001442.2:p.Arg45His
Search 100 bp 5'
Search 100 bp 3'