Canonical Allele Identifier: CA4641571
Gene: FGF20 HGNC NCBI

Linked Data

dbSNP Id: rs772360437
gnomAD v2: 8-16850693-G-A
gnomAD v4: 8-16993184-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.16993184G>A , CM000670.2:g.16993184G>A GRCh38
NC_000008.10:g.16850693G>A , CM000670.1:g.16850693G>A GRCh37
NC_000008.9:g.16895064G>A NCBI36
NG_015978.1:g.13982C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000180166.6:c.524C>T MANE Select ENSP00000180166.5:p.Pro175Leu
ENST00000180166.5:c.524C>T ENSP00000180166.5:p.Pro175Leu
ENST00000519941.1:c.228C>T
NM_019851.2:c.524C>T NP_062825.1:p.Pro175Leu
NM_019851.3:c.524C>T MANE Select NP_062825.1:p.Pro175Leu