Canonical Allele Identifier: CA370394404
Gene: FGF20 HGNC NCBI

Linked Data

gnomAD v4: 8-16993194-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993194C>A , CM000670.2:g.16993194C>A GRCh38
NC_000008.10:g.16850703C>A , CM000670.1:g.16850703C>A GRCh37
NC_000008.9:g.16895074C>A NCBI36
NG_015978.1:g.13972G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.514G>T MANE Select ENSP00000180166.5:p.Asp172Tyr
ENST00000180166.5:c.514G>T ENSP00000180166.5:p.Asp172Tyr
ENST00000519941.1:c.218G>T
NM_019851.2:c.514G>T NP_062825.1:p.Asp172Tyr
NM_019851.3:c.514G>T MANE Select NP_062825.1:p.Asp172Tyr