Canonical Allele Identifier: CA6157043
Gene: FGF3 HGNC NCBI

Linked Data

dbSNP Id: rs782081344
ExAC: 11:69625259 G / C
gnomAD v2: 11-69625259-G-C
gnomAD v4: 11-69810491-G-C
MyVariant Identifiers: chr11:g.69625259G>C (hg19) chr11:g.69810491G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69810491G>C , CM000673.2:g.69810491G>C GRCh38
NC_000011.9:g.69625259G>C , CM000673.1:g.69625259G>C GRCh37
NC_000011.8:g.69334440G>C NCBI36
NG_009016.1:g.13934C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.534C>G MANE Select ENSP00000334122.2:p.Phe178Leu
ENST00000646078.1:n.381C>G
ENST00000334134.2:c.534C>G ENSP00000334122.2:p.Phe178Leu
NM_005247.2:c.534C>G NP_005238.1:p.Phe178Leu
NM_005247.3:c.534C>G NP_005238.1:p.Phe178Leu
NM_005247.4:c.534C>G MANE Select NP_005238.1:p.Phe178Leu
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