Canonical Allele Identifier: CA343027

Gene: FGF3

Linked Data

• ClinVar Variation Id: 38385
• ClinVar RCV Id: RCV000031939 ; RCV000485154 ; RCV003982855
• dbSNP Id: rs281860303
• ExAC: 11:69631129 G / A
• gnomAD v2: 11-69631129-G-A
• gnomAD v3: 11-69816361-G-A
• gnomAD v4: 11-69816361-G-A
• COSMIC: COSM467345
• MyVariant Identifiers: chr11:g.69631129G>A (hg19) ; chr11:g.69816361G>A (hg38)
• PubMed: PMID:22993869

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69816361G>A , CM000673.2:g.69816361G>A	GRCh38
NC_000011.9:g.69631129G>A , CM000673.1:g.69631129G>A	GRCh37
NC_000011.8:g.69340066G>A	NCBI36
NG_009016.1:g.8064C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.283C>T MANE Select	ENSP00000334122.2:p.Arg95Trp
ENST00000646078.1:n.130C>T
ENST00000334134.2:c.283C>T	ENSP00000334122.2:p.Arg95Trp
NM_005247.2:c.283C>T	NP_005238.1:p.Arg95Trp
NM_005247.3:c.283C>T	NP_005238.1:p.Arg95Trp
NM_005247.4:c.283C>T MANE Select	NP_005238.1:p.Arg95Trp