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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:
CA133389553
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs527271139
gnomAD v2:
6-1610929-C-T
gnomAD v4:
6-1610694-C-T
MyVariant Identifiers:
chr6:g.1610929C>T (hg19)
chr6:g.1610694C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610694C>T , CM000668.2:g.1610694C>T
GRCh38
NC_000006.11:g.1610929C>T , CM000668.1:g.1610929C>T
GRCh37
NC_000006.10:g.1555928C>T
NCBI36
NG_009368.1:g.5249C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.249C>T
MANE Select
ENSP00000493906.1:p.Tyr83=
ENST00000380874.3:c.249C>T
ENSP00000370256.2:p.Tyr83=
NM_001453.2:c.249C>T
NP_001444.2:p.Tyr83=
NM_001453.3:c.249C>T
MANE Select
NP_001444.2:p.Tyr83=
Search 100 bp 5'
Search 100 bp 3'