Canonical Allele Identifier: CA6395721
Gene: FGF23 HGNC NCBI

Linked Data

dbSNP Id: rs778035302
ExAC: 12:4481716 GTTAA / G
gnomAD v2: 12-4481716-GTTAA-G
gnomAD v3: 12-4372550-GTTAA-G
gnomAD v4: 12-4372550-GTTAA-G
MyVariant Identifiers: chr12:g.4481717_4481720del (hg19) chr12:g.4372551_4372554del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372553_4372556del , CM000674.2:g.4372553_4372556del GRCh38
NC_000012.11:g.4481719_4481722del , CM000674.1:g.4481719_4481722del GRCh37
NC_000012.10:g.4351980_4351983del NCBI36
NG_007087.1:g.12175_12178del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237837.2:c.315+40_315+43del MANE Select ENSP00000237837.1:n.315+40_315+43del
ENST00000648100.1:c.*1967+6271_*1967+6274del ENSP00000497536.1:n.*1967+6271_*1967+6274del
ENST00000648269.1:n.1815+40_1815+43del
ENST00000674624.1:c.*1204+6271_*1204+6274del ENSP00000501898.1:n.*1204+6271_*1204+6274del
ENST00000237837.1:c.315+40_315+43del ENSP00000237837.1:n.315+40_315+43del
NM_020638.2:c.315+40_315+43del NP_065689.1:n.315+40_315+43del
NM_020638.3:c.315+40_315+43del MANE Select NP_065689.1:n.315+40_315+43del
Search 100 bp 5'
Search 100 bp 3'