Canonical Allele Identifier: CA381664376
Gene: FGF3 HGNC NCBI

Linked Data

dbSNP Id: rs1471911794
gnomAD v2: 11-69633507-G-C
gnomAD v3: 11-69818739-G-C
gnomAD v4: 11-69818739-G-C
MyVariant Identifiers: chr11:g.69633507G>C (hg19) chr11:g.69818739G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69818739G>C , CM000673.2:g.69818739G>C GRCh38
NC_000011.9:g.69633507G>C , CM000673.1:g.69633507G>C GRCh37
NC_000011.8:g.69342444G>C NCBI36
NG_009016.1:g.5686C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.195C>G MANE Select ENSP00000334122.2:p.Asn65Lys
ENST00000334134.2:c.195C>G ENSP00000334122.2:p.Asn65Lys
NM_005247.2:c.195C>G NP_005238.1:p.Asn65Lys
NM_005247.3:c.195C>G NP_005238.1:p.Asn65Lys
NM_005247.4:c.195C>G MANE Select NP_005238.1:p.Asn65Lys
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