Canonical Allele Identifier: CA10637453
Gene: FGF23 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.4368914T>A
GRCh37 chr12:g.4478080T>A
gnomAD v2:
12:4478080 T / A
gnomAD v3:
12:4368914 T / A
gnomAD v4:
chr12-4368914-T-A
Joint Max Group AF 0.27807723 (AMR)
Genomes Max Group AF 0.27984661 (AMR)
Exomes Max Group AF 0.26285648 (NFE)
ClinVar Allele:
324849
ClinVar RCV:
RCV000297238
RCV000356756
RCV001690026
ClinVar Variation:
308779
dbSNP:
11063112
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4368914T>A , CM000674.2:g.4368914T>A GRCh38
NC_000012.11:g.4478080T>A , CM000674.1:g.4478080T>A GRCh37
NC_000012.10:g.4348341T>A NCBI36
NG_007087.1:g.15815A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.*1429A>T MANE Select ENSP00000237837.1:n.*1429A>T
ENST00000648100.1:c.*1967+2632T>A ENSP00000497536.1:n.*1967+2632T>A
ENST00000674624.1:c.*1204+2632T>A ENSP00000501898.1:n.*1204+2632T>A
ENST00000237837.1:c.*1429A>T ENSP00000237837.1:n.*1429A>T
NM_020638.2:c.*1429A>T NP_065689.1:n.*1429A>T
NM_020638.3:c.*1429A>T MANE Select NP_065689.1:n.*1429A>T
Search 100 bp 5'
Search 100 bp 3'