Canonical Allele Identifier: CA475222163
Gene: FGF3 HGNC NCBI

Linked Data

dbSNP Id: rs1416164665
gnomAD v3: 11-69818808-C-T
gnomAD v4: 11-69818808-C-T
MyVariant Identifiers: chr11:g.69633576C>T (hg19) chr11:g.69818808C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818808C>T , CM000673.2:g.69818808C>T GRCh38
NC_000011.9:g.69633576C>T , CM000673.1:g.69633576C>T GRCh37
NC_000011.8:g.69342513C>T NCBI36
NG_009016.1:g.5617G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.126G>A MANE Select ENSP00000334122.2:p.Ala42=
ENST00000334134.2:c.126G>A ENSP00000334122.2:p.Ala42=
NM_005247.2:c.126G>A NP_005238.1:p.Ala42=
NM_005247.3:c.126G>A NP_005238.1:p.Ala42=
NM_005247.4:c.126G>A MANE Select NP_005238.1:p.Ala42=
Search 100 bp 5'
Search 100 bp 3'