Canonical Allele Identifier: CA4641584
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs757072657
gnomAD v2: 8-16850735-G-A
gnomAD v4: 8-16993226-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993226G>A , CM000670.2:g.16993226G>A GRCh38
NC_000008.10:g.16850735G>A , CM000670.1:g.16850735G>A GRCh37
NC_000008.9:g.16895106G>A NCBI36
NG_015978.1:g.13940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.482C>T MANE Select ENSP00000180166.5:p.Thr161Ile
ENST00000180166.5:c.482C>T ENSP00000180166.5:p.Thr161Ile
ENST00000519941.1:c.186C>T
NM_019851.2:c.482C>T NP_062825.1:p.Thr161Ile
NM_019851.3:c.482C>T MANE Select NP_062825.1:p.Thr161Ile