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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:
CA10606400
Gene: FOXC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289288
ClinVar RCV Id:
RCV000330894
dbSNP Id:
rs886044143
MyVariant Identifiers:
chr6:g.1610970dupA (hg19)
chr6:g.1610735dupA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610735dup , CM000668.2:g.1610735dup
GRCh38
NC_000006.11:g.1610970dup , CM000668.1:g.1610970dup
GRCh37
NC_000006.10:g.1555969dup
NCBI36
NG_009368.1:g.5290dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.290dup
MANE Select
ENSP00000493906.1:p.Lys98GlufsTer?
ENST00000380874.3:c.290dup
ENSP00000370256.2:p.Lys98GlufsTer?
NM_001453.2:c.290dup
NP_001444.2:p.Lys98GlufsTer?
NM_001453.3:c.290dup
MANE Select
NP_001444.2:p.Lys98GlufsTer?
Search 100 bp 5'
Search 100 bp 3'