Canonical Allele Identifier: CA381663724
Gene: FGF3 HGNC NCBI

Linked Data

gnomAD v4: 11-69810531-C-T
MyVariant Identifiers: chr11:g.69625299C>T (hg19) chr11:g.69810531C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69810531C>T , CM000673.2:g.69810531C>T GRCh38
NC_000011.9:g.69625299C>T , CM000673.1:g.69625299C>T GRCh37
NC_000011.8:g.69334480C>T NCBI36
NG_009016.1:g.13894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.494G>A MANE Select ENSP00000334122.2:p.Arg165Lys
ENST00000646078.1:n.341G>A
ENST00000334134.2:c.494G>A ENSP00000334122.2:p.Arg165Lys
NM_005247.2:c.494G>A NP_005238.1:p.Arg165Lys
NM_005247.3:c.494G>A NP_005238.1:p.Arg165Lys
NM_005247.4:c.494G>A MANE Select NP_005238.1:p.Arg165Lys
Search 100 bp 5'
Search 100 bp 3'