Canonical Allele Identifier: CA16328389
Gene: FGF20 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.16992989C>G
GRCh37 chr8:g.16850498C>G
gnomAD v2:
8:16850498 C / G
gnomAD v3:
8:16992989 C / G
gnomAD v4:
chr8-16992989-C-G
Joint Max Group AF 0.73406348 (MID)
Genomes Max Group AF 0.70554247 (NFE)
Exomes Max Group AF 0.735018 (MID)
ClinVar RCV:
RCV001713896
ClinVar Variation:
1289305
dbSNP:
1721100
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16992989C>G , CM000670.2:g.16992989C>G GRCh38
NC_000008.10:g.16850498C>G , CM000670.1:g.16850498C>G GRCh37
NC_000008.9:g.16894869C>G NCBI36
NG_015978.1:g.14177G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.*83G>C MANE Select ENSP00000180166.5:n.*83G>C
ENST00000180166.5:c.*83G>C ENSP00000180166.5:n.*83G>C
ENST00000519941.1:c.423G>C
NM_019851.2:c.*83G>C NP_062825.1:n.*83G>C
NM_019851.3:c.*83G>C MANE Select NP_062825.1:n.*83G>C
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