Canonical Allele Identifier: CA13681011
Gene: FGF23 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.4372398T>C
GRCh37 chr12:g.4481564T>C
gnomAD v2:
12:4481564 T / C
gnomAD v3:
12:4372398 T / C
gnomAD v4:
chr12-4372398-T-C
Joint Max Group AF 0.32967109 (SAS)
Genomes Max Group AF 0.32967109 (SAS)
ClinVar RCV:
RCV001666703
ClinVar Variation:
1259786
dbSNP:
11063118
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372398T>C , CM000674.2:g.4372398T>C GRCh38
NC_000012.11:g.4481564T>C , CM000674.1:g.4481564T>C GRCh37
NC_000012.10:g.4351825T>C NCBI36
NG_007087.1:g.12331A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.315+196A>G MANE Select ENSP00000237837.1:n.315+196A>G
ENST00000648100.1:c.*1967+6116T>C ENSP00000497536.1:n.*1967+6116T>C
ENST00000648269.1:n.1815+196A>G
ENST00000674624.1:c.*1204+6116T>C ENSP00000501898.1:n.*1204+6116T>C
ENST00000237837.1:c.315+196A>G ENSP00000237837.1:n.315+196A>G
NM_020638.2:c.315+196A>G NP_065689.1:n.315+196A>G
NM_020638.3:c.315+196A>G MANE Select NP_065689.1:n.315+196A>G
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