Canonical Allele Identifier: CA341312
Gene: FGF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 13841
ClinVar RCV Id: RCV000014853
dbSNP Id: rs121917706

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818917A>G , CM000673.2:g.69818917A>G GRCh38
NC_000011.9:g.69633685A>G , CM000673.1:g.69633685A>G GRCh37
NC_000011.8:g.69342622A>G NCBI36
NG_009016.1:g.5508T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000334134.4:c.17T>C MANE Select ENSP00000334122.2:p.Leu6Pro
ENST00000334134.2:c.17T>C ENSP00000334122.2:p.Leu6Pro
NM_005247.2:c.17T>C NP_005238.1:p.Leu6Pro
NM_005247.3:c.17T>C NP_005238.1:p.Leu6Pro
NM_005247.4:c.17T>C MANE Select NP_005238.1:p.Leu6Pro