Canonical Allele Identifier: CA370394405
Gene: FGF20 HGNC NCBI

Linked Data

gnomAD v4: 8-16993194-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.514G>C MANE Select ENSP00000180166.5:p.Asp172His
ENST00000180166.5:c.514G>C ENSP00000180166.5:p.Asp172His
ENST00000519941.1:c.218G>C
NM_019851.2:c.514G>C NP_062825.1:p.Asp172His
NM_019851.3:c.514G>C MANE Select NP_062825.1:p.Asp172His