Canonical Allele Identifier: CA341313
Gene: FGF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13842
ClinVar RCV Id: RCV000014854
dbSNP Id: rs281860302
MyVariant Identifiers: chr11:g.69631157del (hg19) chr11:g.69816389del (hg38)
PubMed: PMID:18435799 PMID:22993869
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69816390del , CM000673.2:g.69816390del GRCh38
NC_000011.9:g.69631158del , CM000673.1:g.69631158del GRCh37
NC_000011.8:g.69340095del NCBI36
NG_009016.1:g.8036del

Transcript Alleles

HGVS Amino-acid change
ENST00000334134.4:c.255del MANE Select ENSP00000334122.2:p.Ile85MetfsTer15
ENST00000646078.1:n.102del
ENST00000334134.2:c.255del ENSP00000334122.2:p.Ile85MetfsTer15
NM_005247.2:c.255del NP_005238.1:p.Ile85MetfsTer15
NM_005247.3:c.255del NP_005238.1:p.Ile85MetfsTer15
NM_005247.4:c.255del MANE Select NP_005238.1:p.Ile85MetfsTer15
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