Canonical Allele Identifier: CA223501132

Gene: FGF3

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)

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