Canonical Allele Identifier: CA381663676
Gene: FGF3 HGNC NCBI

Linked Data

gnomAD v4: 11-69810507-T-G
MyVariant Identifiers: chr11:g.69625275T>G (hg19) chr11:g.69810507T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.69810507T>G , CM000673.2:g.69810507T>G GRCh38
NC_000011.9:g.69625275T>G , CM000673.1:g.69625275T>G GRCh37
NC_000011.8:g.69334456T>G NCBI36
NG_009016.1:g.13918A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334134.4:c.518A>C MANE Select ENSP00000334122.2:p.Gln173Pro
ENST00000646078.1:n.365A>C
ENST00000334134.2:c.518A>C ENSP00000334122.2:p.Gln173Pro
NM_005247.2:c.518A>C NP_005238.1:p.Gln173Pro
NM_005247.3:c.518A>C NP_005238.1:p.Gln173Pro
NM_005247.4:c.518A>C MANE Select NP_005238.1:p.Gln173Pro
Search 100 bp 5'
Search 100 bp 3'