Canonical Allele Identifier: CA370394244
Gene: FGF20 HGNC NCBI

Linked Data

gnomAD v4: 8-16993116-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993116C>T , CM000670.2:g.16993116C>T GRCh38
NC_000008.10:g.16850625C>T , CM000670.1:g.16850625C>T GRCh37
NC_000008.9:g.16894996C>T NCBI36
NG_015978.1:g.14050G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.592G>A MANE Select ENSP00000180166.5:p.Glu198Lys
ENST00000180166.5:c.592G>A ENSP00000180166.5:p.Glu198Lys
ENST00000519941.1:c.296G>A
NM_019851.2:c.592G>A NP_062825.1:p.Glu198Lys
NM_019851.3:c.592G>A MANE Select NP_062825.1:p.Glu198Lys