Canonical Allele Identifier: CA381663620

Gene: FGF3

Linked Data

• MyVariant Identifiers: chr11:g.69625245A>T (hg19) ; chr11:g.69810477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69810477A>T , CM000673.2:g.69810477A>T	GRCh38
NC_000011.9:g.69625245A>T , CM000673.1:g.69625245A>T	GRCh37
NC_000011.8:g.69334426A>T	NCBI36
NG_009016.1:g.13948T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.548T>A MANE Select	ENSP00000334122.2:p.Leu183Gln
ENST00000646078.1:n.395T>A
ENST00000334134.2:c.548T>A	ENSP00000334122.2:p.Leu183Gln
NM_005247.2:c.548T>A	NP_005238.1:p.Leu183Gln
NM_005247.3:c.548T>A	NP_005238.1:p.Leu183Gln
NM_005247.4:c.548T>A MANE Select	NP_005238.1:p.Leu183Gln