Canonical Allele Identifier: CA341312

Gene: FGF3

Linked Data

• ClinVar Variation Id: 13841
• ClinVar RCV Id: RCV000014853
• dbSNP Id: rs121917706
• gnomAD v4: 11-69818917-A-G
• MyVariant Identifiers: chr11:g.69633685A>G (hg19) ; chr11:g.69818917A>G (hg38)
• PubMed: PMID:18435799 ; PMID:22993869

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