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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:
CA119643
Gene: FOXC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8460
ClinVar RCV Id:
RCV000008980
RCV000173256
dbSNP Id:
rs121909338
MyVariant Identifiers:
chr6:g.1611068C>T (hg19)
chr6:g.1610833C>T (hg38)
PubMed:
PMID:17210863
PMID:23891399
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610833C>T , CM000668.2:g.1610833C>T
GRCh38
NC_000006.11:g.1611068C>T , CM000668.1:g.1611068C>T
GRCh37
NC_000006.10:g.1556067C>T
NCBI36
NG_009368.1:g.5388C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.388C>T
MANE Select
ENSP00000493906.1:p.Leu130Phe
ENST00000380874.3:c.388C>T
ENSP00000370256.2:p.Leu130Phe
NM_001453.2:c.388C>T
NP_001444.2:p.Leu130Phe
NM_001453.3:c.388C>T
MANE Select
NP_001444.2:p.Leu130Phe
Search 100 bp 5'
Search 100 bp 3'