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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:
CA486098740
Gene: FOXG1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1881826100
gnomAD v4:
14-28768623-C-T
COSMIC:
COSM5599566
MyVariant Identifiers:
chr14:g.29237829C>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.28768623C>T , CM000676.2:g.28768623C>T
GRCh38
NC_000014.8:g.29237829C>T , CM000676.1:g.29237829C>T
GRCh37
NC_000014.7:g.28307580C>T
NCBI36
NG_009367.1:g.6543C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000706482.1:c.1344C>T
ENSP00000516406.1:p.Pro448=
ENST00000313071.7:c.1344C>T
MANE Select
ENSP00000339004.3:p.Pro448=
ENST00000313071.6:c.1344C>T
ENSP00000339004.3:p.Pro448=
NM_005249.4:c.1344C>T
NP_005240.3:p.Pro448=
NM_005249.5:c.1344C>T
MANE Select
NP_005240.3:p.Pro448=
Search 100 bp 5'
Search 100 bp 3'