Canonical Allele Identifier: CA381663615

Gene: FGF3

Linked Data

• dbSNP Id: rs782227926
• MyVariant Identifiers: chr11:g.69625242T>G (hg19) ; chr11:g.69810474T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.69810474T>G , CM000673.2:g.69810474T>G	GRCh38
NC_000011.9:g.69625242T>G , CM000673.1:g.69625242T>G	GRCh37
NC_000011.8:g.69334423T>G	NCBI36
NG_009016.1:g.13951A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334134.4:c.551A>C MANE Select	ENSP00000334122.2:p.Asp184Ala
ENST00000646078.1:n.398A>C
ENST00000334134.2:c.551A>C	ENSP00000334122.2:p.Asp184Ala
NM_005247.2:c.551A>C	NP_005238.1:p.Asp184Ala
NM_005247.3:c.551A>C	NP_005238.1:p.Asp184Ala
NM_005247.4:c.551A>C MANE Select	NP_005238.1:p.Asp184Ala