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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:
CA341307
Gene: FGF3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13838
ClinVar RCV Id:
RCV000014850
RCV003398511
RCV003441717
dbSNP Id:
rs121917704
ExAC:
11:69631102 G / A
gnomAD v2:
11-69631102-G-A
gnomAD v3:
11-69816334-G-A
gnomAD v4:
11-69816334-G-A
MyVariant Identifiers:
chr11:g.69631102G>A (hg19)
chr11:g.69816334G>A (hg38)
PubMed:
PMID:17236138
PMID:21480479
PMID:22993869
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.69816334G>A , CM000673.2:g.69816334G>A
GRCh38
NC_000011.9:g.69631102G>A , CM000673.1:g.69631102G>A
GRCh37
NC_000011.8:g.69340039G>A
NCBI36
NG_009016.1:g.8091C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000334134.4:c.310C>T
MANE Select
ENSP00000334122.2:p.Arg104Ter
ENST00000646078.1:n.157C>T
ENST00000334134.2:c.310C>T
ENSP00000334122.2:p.Arg104Ter
NM_005247.2:c.310C>T
NP_005238.1:p.Arg104Ter
NM_005247.3:c.310C>T
NP_005238.1:p.Arg104Ter
NM_005247.4:c.310C>T
MANE Select
NP_005238.1:p.Arg104Ter
Search 100 bp 5'
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