Canonical Allele Identifier: CA475222015
Gene: FGF3 HGNC NCBI

Linked Data

dbSNP Id: rs1554981393
gnomAD v2: 11-69633519-G-A
gnomAD v4: 11-69818751-G-A
MyVariant Identifiers: chr11:g.69633519G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818751G>A , CM000673.2:g.69818751G>A GRCh38
NC_000011.9:g.69633519G>A , CM000673.1:g.69633519G>A GRCh37
NC_000011.8:g.69342456G>A NCBI36
NG_009016.1:g.5674C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.183C>T MANE Select ENSP00000334122.2:p.Ser61=
ENST00000334134.2:c.183C>T ENSP00000334122.2:p.Ser61=
NM_005247.2:c.183C>T NP_005238.1:p.Ser61=
NM_005247.3:c.183C>T NP_005238.1:p.Ser61=
NM_005247.4:c.183C>T MANE Select NP_005238.1:p.Ser61=
Search 100 bp 5'
Search 100 bp 3'