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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:
CA362558272
Gene: FOXC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430705
ClinVar RCV Id:
RCV000495841
dbSNP Id:
rs368260972
MyVariant Identifiers:
chr6:g.1610872C>G (hg19)
chr6:g.1610637C>G (hg38)
PubMed:
PMID:28432732
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610637C>G , CM000668.2:g.1610637C>G
GRCh38
NC_000006.11:g.1610872C>G , CM000668.1:g.1610872C>G
GRCh37
NC_000006.10:g.1555871C>G
NCBI36
NG_009368.1:g.5192C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.192C>G
MANE Select
ENSP00000493906.1:p.Tyr64Ter
ENST00000380874.3:c.192C>G
ENSP00000370256.2:p.Tyr64Ter
NM_001453.2:c.192C>G
NP_001444.2:p.Tyr64Ter
NM_001453.3:c.192C>G
MANE Select
NP_001444.2:p.Tyr64Ter
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