Canonical Allele Identifier: CA4641574
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs376980441
gnomAD v2: 8-16850701-G-A
gnomAD v3: 8-16993192-G-A
gnomAD v4: 8-16993192-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993192G>A , CM000670.2:g.16993192G>A GRCh38
NC_000008.10:g.16850701G>A , CM000670.1:g.16850701G>A GRCh37
NC_000008.9:g.16895072G>A NCBI36
NG_015978.1:g.13974C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.516C>T MANE Select ENSP00000180166.5:p.Asp172=
ENST00000180166.5:c.516C>T ENSP00000180166.5:p.Asp172=
ENST00000519941.1:c.220C>T
NM_019851.2:c.516C>T NP_062825.1:p.Asp172=
NM_019851.3:c.516C>T MANE Select NP_062825.1:p.Asp172=