Canonical Allele Identifier: CA4641563
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs753990768
gnomAD v2: 8-16850669-C-T
gnomAD v3: 8-16993160-C-T
gnomAD v4: 8-16993160-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993160C>T , CM000670.2:g.16993160C>T GRCh38
NC_000008.10:g.16850669C>T , CM000670.1:g.16850669C>T GRCh37
NC_000008.9:g.16895040C>T NCBI36
NG_015978.1:g.14006G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.548G>A MANE Select ENSP00000180166.5:p.Arg183Lys
ENST00000180166.5:c.548G>A ENSP00000180166.5:p.Arg183Lys
ENST00000519941.1:c.252G>A
NM_019851.2:c.548G>A NP_062825.1:p.Arg183Lys
NM_019851.3:c.548G>A MANE Select NP_062825.1:p.Arg183Lys