Canonical Allele Identifier: CA10602348
Gene: FGF20 HGNC NCBI

Linked Data

ClinVar Variation Id: 4885
dbSNP Id: rs12720208
gnomAD v2: 8-16850399-G-A
gnomAD v3: 8-16992890-G-A
gnomAD v4: 8-16992890-G-A

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