Canonical Allele Identifier: CA370394424
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1809957044
gnomAD v3: 8-16993203-G-A
gnomAD v4: 8-16993203-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993203G>A , CM000670.2:g.16993203G>A GRCh38
NC_000008.10:g.16850712G>A , CM000670.1:g.16850712G>A GRCh37
NC_000008.9:g.16895083G>A NCBI36
NG_015978.1:g.13963C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.505C>T MANE Select ENSP00000180166.5:p.Leu169Phe
ENST00000180166.5:c.505C>T ENSP00000180166.5:p.Leu169Phe
ENST00000519941.1:c.209C>T
NM_019851.2:c.505C>T NP_062825.1:p.Leu169Phe
NM_019851.3:c.505C>T MANE Select NP_062825.1:p.Leu169Phe