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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:
CA658683436
Gene: FOXC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495292
ClinVar RCV Id:
RCV000585863
dbSNP Id:
rs1554100963
MyVariant Identifiers:
chr6:g.1611089_1611091del (hg19)
chr6:g.1610854_1610856del (hg38)
PubMed:
PMID:25967385
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610854_1610856del , CM000668.2:g.1610854_1610856del
GRCh38
NC_000006.11:g.1611089_1611091del , CM000668.1:g.1611089_1611091del
GRCh37
NC_000006.10:g.1556088_1556090del
NCBI36
NG_009368.1:g.5409_5411del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.409_411del
MANE Select
ENSP00000493906.1:p.Val137del
ENST00000380874.3:c.409_411del
ENSP00000370256.2:p.Val137del
NM_001453.2:c.409_411del
NP_001444.2:p.Val137del
NM_001453.3:c.409_411del
MANE Select
NP_001444.2:p.Val137del
Search 100 bp 5'
Search 100 bp 3'