Canonical Allele Identifier: CA6395723
Gene: FGF23 HGNC NCBI

Linked Data

dbSNP Id: rs749444252
ExAC: 12:4481731 A / AT
gnomAD v2: 12-4481731-A-AT
gnomAD v4: 12-4372565-A-AT
MyVariant Identifiers: chr12:g.4481731_4481732insT (hg19) chr12:g.4372565_4372566insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372566dup , CM000674.2:g.4372566dup GRCh38
NC_000012.11:g.4481732dup , CM000674.1:g.4481732dup GRCh37
NC_000012.10:g.4351993dup NCBI36
NG_007087.1:g.12163dup

Transcript Alleles

HGVS Amino-acid change
ENST00000237837.2:c.315+28dup MANE Select ENSP00000237837.1:n.315+28dup
ENST00000648100.1:c.*1967+6284dup ENSP00000497536.1:n.*1967+6284dup
ENST00000648269.1:n.1815+28dup
ENST00000674624.1:c.*1204+6284dup ENSP00000501898.1:n.*1204+6284dup
ENST00000237837.1:c.315+28dup ENSP00000237837.1:n.315+28dup
NM_020638.2:c.315+28dup NP_065689.1:n.315+28dup
NM_020638.3:c.315+28dup MANE Select NP_065689.1:n.315+28dup
Search 100 bp 5'
Search 100 bp 3'