Canonical Allele Identifier: CA117220
Gene: FGF23 HGNC NCBI

Linked Data

ClinVar Variation Id: 5028
dbSNP Id: rs104894343

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372622A>G , CM000674.2:g.4372622A>G GRCh38
NC_000012.11:g.4481788A>G , CM000674.1:g.4481788A>G GRCh37
NC_000012.10:g.4352049A>G NCBI36
NG_007087.1:g.12107T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000237837.2:c.287T>C MANE Select ENSP00000237837.1:p.Met96Thr
ENST00000648100.1:c.*1967+6340A>G ENSP00000497536.1:n.*1967+6340A>G
ENST00000648269.1:n.1787T>C
ENST00000674624.1:c.*1204+6340A>G ENSP00000501898.1:n.*1204+6340A>G
ENST00000237837.1:c.287T>C ENSP00000237837.1:p.Met96Thr
NM_020638.2:c.287T>C NP_065689.1:p.Met96Thr
NM_020638.3:c.287T>C MANE Select NP_065689.1:p.Met96Thr