Canonical Allele Identifier: CA4641556
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs764646776
gnomAD v2: 8-16850636-G-A
gnomAD v4: 8-16993127-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993127G>A , CM000670.2:g.16993127G>A GRCh38
NC_000008.10:g.16850636G>A , CM000670.1:g.16850636G>A GRCh37
NC_000008.9:g.16895007G>A NCBI36
NG_015978.1:g.14039C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.581C>T MANE Select ENSP00000180166.5:p.Pro194Leu
ENST00000180166.5:c.581C>T ENSP00000180166.5:p.Pro194Leu
ENST00000519941.1:c.285C>T
NM_019851.2:c.581C>T NP_062825.1:p.Pro194Leu
NM_019851.3:c.581C>T MANE Select NP_062825.1:p.Pro194Leu