Canonical Allele Identifier: CA381664441
Gene: FGF3 HGNC NCBI

Linked Data

dbSNP Id: rs2119939523
gnomAD v4: 11-69818769-G-T
MyVariant Identifiers: chr11:g.69633537G>T (hg19) chr11:g.69818769G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818769G>T , CM000673.2:g.69818769G>T GRCh38
NC_000011.9:g.69633537G>T , CM000673.1:g.69633537G>T GRCh37
NC_000011.8:g.69342474G>T NCBI36
NG_009016.1:g.5656C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.165C>A MANE Select ENSP00000334122.2:p.His55Gln
ENST00000334134.2:c.165C>A ENSP00000334122.2:p.His55Gln
NM_005247.2:c.165C>A NP_005238.1:p.His55Gln
NM_005247.3:c.165C>A NP_005238.1:p.His55Gln
NM_005247.4:c.165C>A MANE Select NP_005238.1:p.His55Gln
Search 100 bp 5'
Search 100 bp 3'