Canonical Allele Identifier: CA223501132
Gene: FGF3 HGNC NCBI

Linked Data

ClinVar Variation Id: 426706
ClinVar RCV Id: RCV000489136 RCV000763765
dbSNP Id: rs1039515359
gnomAD v2: 11-69633602-C-A
gnomAD v3: 11-69818834-C-A
gnomAD v4: 11-69818834-C-A
MyVariant Identifiers: chr11:g.69633602C>A (hg19) chr11:g.69818834C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818834C>A , CM000673.2:g.69818834C>A GRCh38
NC_000011.9:g.69633602C>A , CM000673.1:g.69633602C>A GRCh37
NC_000011.8:g.69342539C>A NCBI36
NG_009016.1:g.5591G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000334134.4:c.100G>T MANE Select ENSP00000334122.2:p.Gly34Cys
ENST00000334134.2:c.100G>T ENSP00000334122.2:p.Gly34Cys
NM_005247.2:c.100G>T NP_005238.1:p.Gly34Cys
NM_005247.3:c.100G>T NP_005238.1:p.Gly34Cys
NM_005247.4:c.100G>T MANE Select NP_005238.1:p.Gly34Cys
Search 100 bp 5'
Search 100 bp 3'