Canonical Allele Identifier: CA1111331336
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1809957495
gnomAD v3: 8-16993219-GC-G
gnomAD v4: 8-16993219-GC-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993220del , CM000670.2:g.16993220del GRCh38
NC_000008.10:g.16850729del , CM000670.1:g.16850729del GRCh37
NC_000008.9:g.16895100del NCBI36
NG_015978.1:g.13946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.488del MANE Select ENSP00000180166.5:p.Arg163ProfsTer?
ENST00000180166.5:c.488del ENSP00000180166.5:p.Arg163ProfsTer?
ENST00000519941.1:c.192del
NM_019851.2:c.488del NP_062825.1:p.Arg163ProfsTer?
NM_019851.3:c.488del MANE Select NP_062825.1:p.Arg163ProfsTer?
Search 100 bp 5'
Search 100 bp 3'