Canonical Allele Identifier: CA4641558
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs762432192
gnomAD v2: 8-16850644-T-G
gnomAD v3: 8-16993135-T-G
gnomAD v4: 8-16993135-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993135T>G , CM000670.2:g.16993135T>G GRCh38
NC_000008.10:g.16850644T>G , CM000670.1:g.16850644T>G GRCh37
NC_000008.9:g.16895015T>G NCBI36
NG_015978.1:g.14031A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.573A>C MANE Select ENSP00000180166.5:p.Leu191Phe
ENST00000180166.5:c.573A>C ENSP00000180166.5:p.Leu191Phe
ENST00000519941.1:c.277A>C
NM_019851.2:c.573A>C NP_062825.1:p.Leu191Phe
NM_019851.3:c.573A>C MANE Select NP_062825.1:p.Leu191Phe