Canonical Allele Identifier: CA6395742
Gene: FGF23 HGNC NCBI
gnomAD v2:
12:4481899 C / CG
gnomAD v3:
12:4372733 C / CG
gnomAD v4:
chr12-4372733-C-CG
Joint Max Group AF 0.20886596 (SAS)
Genomes Max Group AF 0.21508192 (SAS)
Exomes Max Group AF 0.20791564 (SAS)
ClinVar RCV:
RCV001638627
ClinVar Variation:
1238224
dbSNP:
3832879
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372733_4372734insG , CM000674.2:g.4372733_4372734insG GRCh38
NC_000012.11:g.4481899_4481900insG , CM000674.1:g.4481899_4481900insG GRCh37
NC_000012.10:g.4352160_4352161insG NCBI36
NG_007087.1:g.11995_11996insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.212-37_212-36insC MANE Select ENSP00000237837.1:n.212-37_212-36insC
ENST00000648100.1:c.*1967+6451_*1967+6452insG ENSP00000497536.1:n.*1967+6451_*1967+6452insG
ENST00000648269.1:n.1675_1676insC
ENST00000674624.1:c.*1204+6451_*1204+6452insG ENSP00000501898.1:n.*1204+6451_*1204+6452insG
ENST00000237837.1:c.212-37_212-36insC ENSP00000237837.1:n.212-37_212-36insC
NM_020638.2:c.212-37_212-36insC NP_065689.1:n.212-37_212-36insC
NM_020638.3:c.212-37_212-36insC MANE Select NP_065689.1:n.212-37_212-36insC
Search 100 bp 5'
Search 100 bp 3'