fibroblast growth factor 23 (FGF23) - coding DNA reference sequence

(used for variant description)

(last modified November 29, 2021)

This file was created to facilitate the description of sequence variants on transcript NM_020638.2 in the FGF23 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000012.11, covering FGF23 transcript NM_020638.2.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                                         .         .                g.5026
                                   cggcaaaaaggagggaatccagtcta       c.-121

 .         .         .         .         .         .                g.5086
 ggatcctcacaccagctacttgcaagggagaaggaaaaggccagtaaggcctgggccagg       c.-61

 .         .         .         .         .         .                g.5146
 agagtcccgacaggagtgtcaggtttcaatctcagcaccagccactcagagcagggcacg       c.-1

          .         .         .         .         .         .       g.5206
 ATGTTGGGGGCCCGCCTCAGGCTCTGGGTCTGTGCCTTGTGCAGCGTCTGCAGCATGAGC       c.60
 M  L  G  A  R  L  R  L  W  V  C  A  L  C  S  V  C  S  M  S         p.20

          .         .         .         .         .         .       g.5266
 GTCCTCAGAGCCTATCCCAATGCCTCCCCACTGCTCGGCTCCAGCTGGGGTGGCCTGATC       c.120
 V  L  R  A  Y  P  N  A  S  P  L  L  G  S  S  W  G  G  L  I         p.40

          .         .         .         .         .         .       g.5326
 CACCTGTACACAGCCACAGCCAGGAACAGCTACCACCTGCAGATCCACAAGAATGGCCAT       c.180
 H  L  Y  T  A  T  A  R  N  S  Y  H  L  Q  I  H  K  N  G  H         p.60

          .         .         .  | 02      .         .         .    g.12060
 GTGGATGGCGCACCCCATCAGACCATCTACA | GTGCCCTGATGATCAGATCAGAGGATGCT    c.240
 V  D  G  A  P  H  Q  T  I  Y  S |   A  L  M  I  R  S  E  D  A      p.80

          .         .         .         .         .         .       g.12120
 GGCTTTGTGGTGATTACAGGTGTGATGAGCAGAAGATACCTCTGCATGGATTTCAGAGGC       c.300
 G  F  V  V  I  T  G  V  M  S  R  R  Y  L  C  M  D  F  R  G         p.100

          .      | 03  .         .         .         .         .    g.13990
 AACATTTTTGGATCA | CACTATTTCGACCCGGAGAACTGCAGGTTCCAACACCAGACGCTG    c.360
 N  I  F  G  S   | H  Y  F  D  P  E  N  C  R  F  Q  H  Q  T  L      p.120

          .         .         .         .         .         .       g.14050
 GAAAACGGGTACGACGTCTACCACTCTCCTCAGTATCACTTCCTGGTCAGTCTGGGCCGG       c.420
 E  N  G  Y  D  V  Y  H  S  P  Q  Y  H  F  L  V  S  L  G  R         p.140

          .         .         .         .         .         .       g.14110
 GCGAAGAGAGCCTTCCTGCCAGGCATGAACCCACCCCCGTACTCCCAGTTCCTGTCCCGG       c.480
 A  K  R  A  F  L  P  G  M  N  P  P  P  Y  S  Q  F  L  S  R         p.160

          .         .         .         .         .         .       g.14170
 AGGAACGAGATCCCCCTAATTCACTTCAACACCCCCATACCACGGCGGCACACCCGGAGC       c.540
 R  N  E  I  P  L  I  H  F  N  T  P  I  P  R  R  H  T  R  S         p.180

          .         .         .         .         .         .       g.14230
 GCCGAGGACGACTCGGAGCGGGACCCCCTGAACGTGCTGAAGCCCCGGGCCCGGATGACC       c.600
 A  E  D  D  S  E  R  D  P  L  N  V  L  K  P  R  A  R  M  T         p.200

          .         .         .         .         .         .       g.14290
 CCGGCCCCGGCCTCCTGTTCACAGGAGCTCCCGAGCGCCGAGGACAACAGCCCGATGGCC       c.660
 P  A  P  A  S  C  S  Q  E  L  P  S  A  E  D  N  S  P  M  A         p.220

          .         .         .         .         .         .       g.14350
 AGTGACCCATTAGGGGTGGTCAGGGGCGGTCGAGTGAACACGCACGCTGGGGGAACGGGC       c.720
 S  D  P  L  G  V  V  R  G  G  R  V  N  T  H  A  G  G  T  G         p.240

          .         .         .                                     g.14386
 CCGGAAGGCTGCCGCCCCTTCGCCAAGTTCATCTAG                               c.756
 P  E  G  C  R  P  F  A  K  F  I  X                                 p.251

          .         .         .         .         .         .       g.14446
 ggtcgctggaagggcaccctctttaacccatccctcagcaaacgcagctcttcccaagga       c.*60

          .         .         .         .         .         .       g.14506
 ccaggtcccttgacgttccgaggatgggaaaggtgacaggggcatgtatggaatttgctg       c.*120

          .         .         .         .         .         .       g.14566
 cttctctggggtcccttccacaggaggtcctgtgagaaccaacctttgaggcccaagtca       c.*180

          .         .         .         .         .         .       g.14626
 tggggtttcaccgccttcctcactccatatagaacacctttcccaataggaaaccccaac       c.*240

          .         .         .         .         .         .       g.14686
 aggtaaactagaaatttccccttcatgaaggtagagagaaggggtctctcccaacatatt       c.*300

          .         .         .         .         .         .       g.14746
 tctcttccttgtgcctctcctctttatcacttttaagcataaaaaaaaaaaaaaaaaaaa       c.*360

          .         .         .         .         .         .       g.14806
 aaaaaaaaaaaagcagtgggttcctgagctcaagactttgaaggtgtagggaagaggaaa       c.*420

          .         .         .         .         .         .       g.14866
 tcggagatcccagaagcttctccactgccctatgcatttatgttagatgccccgatccca       c.*480

          .         .         .         .         .         .       g.14926
 ctggcatttgagtgtgcaaaccttgacattaacagctgaatggggcaagttgatgaaaac       c.*540

          .         .         .         .         .         .       g.14986
 actactttcaagccttcgttcttccttgagcatctctggggaagagctgtcaaaagactg       c.*600

          .         .         .         .         .         .       g.15046
 gtggtaggctggtgaaaacttgacagctagacttgatgcttgctgaaatgaggcaggaat       c.*660

          .         .         .         .         .         .       g.15106
 cataatagaaaactcagcctccctacagggtgagcaccttctgtctcgctgtctccctct       c.*720

          .         .         .         .         .         .       g.15166
 gtgcagccacagccagagggcccagaatggccccactctgttcccaagcagttcatgata       c.*780

          .         .         .         .         .         .       g.15226
 cagcctcaccttttggccccatctctggtttttgaaaatttggtctaaggaataaatagc       c.*840

          .         .         .         .         .         .       g.15286
 ttttacactggctcacgaaaatctgccctgctagaatttgcttttcaaaatggaaataaa       c.*900

          .         .         .         .         .         .       g.15346
 ttccaactctcctaagaggcatttaattaaggctctacttccaggttgagtaggaatcca       c.*960

          .         .         .         .         .         .       g.15406
 ttctgaacaaactacaaaaatgtgactgggaagggggctttgagagactgggactgctct       c.*1020

          .         .         .         .         .         .       g.15466
 gggttaggttttctgtggactgaaaaatcgtgtccttttctctaaatgaagtggcatcaa       c.*1080

          .         .         .         .         .         .       g.15526
 ggactcagggggaaagaaatcaggggacatgttatagaagttatgaaaagacaaccacat       c.*1140

          .         .         .         .         .         .       g.15586
 ggtcaggctcttgtctgtggtctctagggctctgcagcagcagtggctcttcgattagtt       c.*1200

          .         .         .         .         .         .       g.15646
 aaaactctcctaggctgacacatctgggtctcaatccccttggaaattcttggtgcatta       c.*1260

          .         .         .         .         .         .       g.15706
 aatgaagccttaccccattactgcggttcttcctgtaagggggctccattttcctccctc       c.*1320

          .         .         .         .         .         .       g.15766
 tctttaaatgaccacctaaaggacagtatattaacaagcaaagtcgattcaacaacagct       c.*1380

          .         .         .         .         .         .       g.15826
 tcttcccagtcacttttttttttctcactgccatcacatactaaccttatactttgatct       c.*1440

          .         .         .         .         .         .       g.15886
 attctttttggttatgagagaaatgttgggcaactgtttttacctgatggttttaagctg       c.*1500

          .         .         .         .         .         .       g.15946
 aacttgaaggactggttcctattctgaaacagtaaaactatgtataatagtatatagcca       c.*1560

          .         .         .         .         .         .       g.16006
 tgcatggcaaatattttaatatttctgttttcatttcctgttggaaatattatcctgcat       c.*1620

          .         .         .         .         .         .       g.16066
 aatagctattggaggctcctcagtgaaagatcccaaaaggattttggtggaaaactagtt       c.*1680

          .         .         .         .         .         .       g.16126
 gtaatctcacaaactcaacactaccatcaggggttttctttatggcaaagccaaaatagc       c.*1740

          .         .         .         .         .         .       g.16186
 tcctacaatttcttatatccctcgtcatgtggcagtatttatttatttatttggaagttt       c.*1800

          .         .         .         .         .         .       g.16246
 gcctatccttctatatttatagatatttataaaaatgtaacccctttttcctttcttctg       c.*1860

          .         .         .         .         .         .       g.16306
 tttaaaataaaaataaaatttatctcagcttctgttagcttatcctctttgtagtactac       c.*1920

          .         .         .         .         .         .       g.16366
 ttaaaagcatgtcggaatataagaataaaaaggattatgggaggggaacattagggaaat       c.*1980

          .         .         .         .         .         .       g.16426
 ccagagaaggcaaaattgaaaaaaagattttagaattttaaaattttcaaagatttcttc       c.*2040

          .         .         .         .         .         .       g.16486
 cattcataaggagactcaatgattttaattgatctagacagaattatttaagttttatca       c.*2100

          .                                                         g.16502
 atattggatttctggt                                                   c.*2116

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Fibroblast growth factor 23 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.