Canonical Allele Identifier: CA6395722
Gene: FGF23 HGNC NCBI

Linked Data

dbSNP Id: rs376423043
gnomAD v2: 12-4481727-G-T
gnomAD v3: 12-4372561-G-T
gnomAD v4: 12-4372561-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.4372561G>T , CM000674.2:g.4372561G>T GRCh38
NC_000012.11:g.4481727G>T , CM000674.1:g.4481727G>T GRCh37
NC_000012.10:g.4351988G>T NCBI36
NG_007087.1:g.12168C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237837.2:c.315+33C>A MANE Select ENSP00000237837.1:n.315+33C>A
ENST00000648100.1:c.*1967+6279G>T ENSP00000497536.1:n.*1967+6279G>T
ENST00000648269.1:n.1815+33C>A
ENST00000674624.1:c.*1204+6279G>T ENSP00000501898.1:n.*1204+6279G>T
ENST00000237837.1:c.315+33C>A ENSP00000237837.1:n.315+33C>A
NM_020638.2:c.315+33C>A NP_065689.1:n.315+33C>A
NM_020638.3:c.315+33C>A MANE Select NP_065689.1:n.315+33C>A