Canonical Allele Identifier: CA6395616
Gene: FGF23 HGNC NCBI
COSMIC:
COSM3753225 (not active)
MyVariant.info:
GRCh38 chr12:g.4370383G>A
GRCh37 chr12:g.4479549G>A
Revel Score:
ENST00000237837 (MANE Select) 0.189
gnomAD v2:
12:4479549 G / A
gnomAD v3:
12:4370383 G / A
gnomAD v4:
chr12-4370383-G-A
Joint Max Group AF 0.19776397 (AMR)
Genomes Max Group AF 0.19636587 (EAS)
Exomes Max Group AF 0.19787757 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4370383G>A , CM000674.2:g.4370383G>A GRCh38
NC_000012.11:g.4479549G>A , CM000674.1:g.4479549G>A GRCh37
NC_000012.10:g.4349810G>A NCBI36
NG_007087.1:g.14346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.716C>T MANE Select ENSP00000237837.1:p.Thr239Met
ENST00000648100.1:c.*1967+4101G>A ENSP00000497536.1:n.*1967+4101G>A
ENST00000674624.1:c.*1204+4101G>A ENSP00000501898.1:n.*1204+4101G>A
ENST00000237837.1:c.716C>T ENSP00000237837.1:p.Thr239Met
NM_020638.2:c.716C>T NP_065689.1:p.Thr239Met
NM_020638.3:c.716C>T MANE Select NP_065689.1:p.Thr239Met
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