Canonical Allele Identifier: CA370394346
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs1368510325
gnomAD v2: 8-16850672-T-C
gnomAD v4: 8-16993163-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993163T>C , CM000670.2:g.16993163T>C GRCh38
NC_000008.10:g.16850672T>C , CM000670.1:g.16850672T>C GRCh37
NC_000008.9:g.16895043T>C NCBI36
NG_015978.1:g.14003A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.545A>G MANE Select ENSP00000180166.5:p.Lys182Arg
ENST00000180166.5:c.545A>G ENSP00000180166.5:p.Lys182Arg
ENST00000519941.1:c.249A>G
NM_019851.2:c.545A>G NP_062825.1:p.Lys182Arg
NM_019851.3:c.545A>G MANE Select NP_062825.1:p.Lys182Arg