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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:
CA341306
Gene: FGF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13837
ClinVar RCV Id:
RCV000014849
dbSNP Id:
rs121917703
ExAC:
11:69625327 A / G
MyVariant Identifiers:
chr11:g.69625327A>G (hg19)
chr11:g.69810559A>G (hg38)
PubMed:
PMID:17236138
PMID:22993869
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.69810559A>G , CM000673.2:g.69810559A>G
GRCh38
NC_000011.9:g.69625327A>G , CM000673.1:g.69625327A>G
GRCh37
NC_000011.8:g.69334508A>G
NCBI36
NG_009016.1:g.13866T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000334134.4:c.466T>C
MANE Select
ENSP00000334122.2:p.Ser156Pro
ENST00000646078.1:n.313T>C
ENST00000334134.2:c.466T>C
ENSP00000334122.2:p.Ser156Pro
NM_005247.2:c.466T>C
NP_005238.1:p.Ser156Pro
NM_005247.3:c.466T>C
NP_005238.1:p.Ser156Pro
NM_005247.4:c.466T>C
MANE Select
NP_005238.1:p.Ser156Pro
Search 100 bp 5'
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