Canonical Allele Identifier: CA213692
Gene: FGF23 HGNC NCBI

Linked Data

ClinVar Variation Id: 36134
ClinVar RCV Id: RCV000029797
dbSNP Id: rs193922701

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4379421C>G , CM000674.2:g.4379421C>G GRCh38
NC_000012.11:g.4488587C>G , CM000674.1:g.4488587C>G GRCh37
NC_000012.10:g.4358848C>G NCBI36
NG_007087.1:g.5308G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237837.2:c.162G>C MANE Select ENSP00000237837.1:p.Gln54His
ENST00000648100.1:c.*1967+13139C>G ENSP00000497536.1:n.*1967+13139C>G
ENST00000674624.1:c.*1204+13139C>G ENSP00000501898.1:n.*1204+13139C>G
ENST00000237837.1:c.162G>C ENSP00000237837.1:p.Gln54His
NM_020638.2:c.162G>C NP_065689.1:p.Gln54His
NM_020638.3:c.162G>C MANE Select NP_065689.1:p.Gln54His