Canonical Allele Identifier: CA10602348
Gene: FGF20 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.16992890G>A
GRCh37 chr8:g.16850399G>A
gnomAD v2:
8:16850399 G / A
gnomAD v3:
8:16992890 G / A
gnomAD v4:
chr8-16992890-G-A
Joint Max Group AF 0.08670854 (NFE)
Genomes Max Group AF 0.08298019 (NFE)
Exomes Max Group AF 0.08717191 (NFE)
ClinVar RCV:
RCV000005162
RCV001723539
ClinVar Variation:
4885
dbSNP:
12720208
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16992890G>A , CM000670.2:g.16992890G>A GRCh38
NC_000008.10:g.16850399G>A , CM000670.1:g.16850399G>A GRCh37
NC_000008.9:g.16894770G>A NCBI36
NG_015978.1:g.14276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.*182C>T MANE Select ENSP00000180166.5:n.*182C>T
ENST00000180166.5:c.*182C>T ENSP00000180166.5:n.*182C>T
NM_019851.2:c.*182C>T NP_062825.1:n.*182C>T
NM_019851.3:c.*182C>T MANE Select NP_062825.1:n.*182C>T
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