Canonical Allele Identifier: CA117219
Gene: FGF23 HGNC NCBI
ClinVar RCV:
RCV000005330
RCV000412723
RCV000662354
RCV000984806
ClinVar Variation:
5027
dbSNP:
104894342
gnomAD v2:
12:4488538 T / C
gnomAD v3:
12:4379372 T / C
gnomAD v4:
chr12-4379372-T-C
Joint Max Group AF 0.00004184 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00004266 (NFE)
MyVariant.info:
GRCh38 chr12:g.4379372T>C
GRCh37 chr12:g.4488538T>C
Revel Score:
ENST00000237837 (MANE Select) 0.746
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4379372T>C , CM000674.2:g.4379372T>C GRCh38
NC_000012.11:g.4488538T>C , CM000674.1:g.4488538T>C GRCh37
NC_000012.10:g.4358799T>C NCBI36
NG_007087.1:g.5357A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.211A>G MANE Select ENSP00000237837.1:p.Ser71Gly
ENST00000648100.1:c.*1967+13090T>C ENSP00000497536.1:n.*1967+13090T>C
ENST00000674624.1:c.*1204+13090T>C ENSP00000501898.1:n.*1204+13090T>C
ENST00000237837.1:c.211A>G ENSP00000237837.1:p.Ser71Gly
NM_020638.2:c.211A>G NP_065689.1:p.Ser71Gly
NM_020638.3:c.211A>G MANE Select NP_065689.1:p.Ser71Gly
Search 100 bp 5'
Search 100 bp 3'