Canonical Allele Identifier: CA4641581
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs760365627
gnomAD v2: 8-16850729-C-T
gnomAD v4: 8-16993220-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993220C>T , CM000670.2:g.16993220C>T GRCh38
NC_000008.10:g.16850729C>T , CM000670.1:g.16850729C>T GRCh37
NC_000008.9:g.16895100C>T NCBI36
NG_015978.1:g.13946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.488G>A MANE Select ENSP00000180166.5:p.Arg163His
ENST00000180166.5:c.488G>A ENSP00000180166.5:p.Arg163His
ENST00000519941.1:c.192G>A
NM_019851.2:c.488G>A NP_062825.1:p.Arg163His
NM_019851.3:c.488G>A MANE Select NP_062825.1:p.Arg163His