Canonical Allele Identifier: CA117221
Gene: FGF23 HGNC NCBI

Linked Data

ClinVar Variation Id: 5029
ClinVar RCV Id: RCV000005332
dbSNP Id: rs104894344

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4370713G>A , CM000674.2:g.4370713G>A GRCh38
NC_000012.11:g.4479879G>A , CM000674.1:g.4479879G>A GRCh37
NC_000012.10:g.4350140G>A NCBI36
NG_007087.1:g.14016C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000237837.2:c.386C>T MANE Select ENSP00000237837.1:p.Ser129Phe
ENST00000648100.1:c.*1967+4431G>A ENSP00000497536.1:n.*1967+4431G>A
ENST00000648269.1:n.1886C>T
ENST00000674624.1:c.*1204+4431G>A ENSP00000501898.1:n.*1204+4431G>A
ENST00000237837.1:c.386C>T ENSP00000237837.1:p.Ser129Phe
NM_020638.2:c.386C>T NP_065689.1:p.Ser129Phe
NM_020638.3:c.386C>T MANE Select NP_065689.1:p.Ser129Phe