Canonical Allele Identifier: CA223497103

Gene: FGF3

Linked Data

• dbSNP Id: rs7110221
• MyVariant Identifiers: chr11:g.69625275T>A (hg19) ; chr11:g.69810507T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69810507T>A , CM000673.2:g.69810507T>A	GRCh38
NC_000011.9:g.69625275T>A , CM000673.1:g.69625275T>A	GRCh37
NC_000011.8:g.69334456T>A	NCBI36
NG_009016.1:g.13918A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.518A>T MANE Select	ENSP00000334122.2:p.Gln173Leu
ENST00000646078.1:n.365A>T
ENST00000334134.2:c.518A>T	ENSP00000334122.2:p.Gln173Leu
NM_005247.2:c.518A>T	NP_005238.1:p.Gln173Leu
NM_005247.3:c.518A>T	NP_005238.1:p.Gln173Leu
NM_005247.4:c.518A>T MANE Select	NP_005238.1:p.Gln173Leu