Canonical Allele Identifier: CA381663673

Gene: FGF3

Linked Data

• MyVariant Identifiers: chr11:g.69625274C>G (hg19) ; chr11:g.69810506C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69810506C>G , CM000673.2:g.69810506C>G	GRCh38
NC_000011.9:g.69625274C>G , CM000673.1:g.69625274C>G	GRCh37
NC_000011.8:g.69334455C>G	NCBI36
NG_009016.1:g.13919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.519G>C MANE Select	ENSP00000334122.2:p.Gln173His
ENST00000646078.1:n.366G>C
ENST00000334134.2:c.519G>C	ENSP00000334122.2:p.Gln173His
NM_005247.2:c.519G>C	NP_005238.1:p.Gln173His
NM_005247.3:c.519G>C	NP_005238.1:p.Gln173His
NM_005247.4:c.519G>C MANE Select	NP_005238.1:p.Gln173His