fibroblast growth factor 5 (FGF5) - coding DNA reference sequence

(used for variant description)

(last modified October 18, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_004464.3 in the FGF5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering FGF5 transcript NM_004464.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5057
    ggggaagcttcgcaggcgtgcacggagcagtgagatcactggcgttataaatatccc       c.-181

 .         .         .         .         .         .                g.5117
 ggtgccagcgcggagatccgctcgggtggcctctctcttcccctctccccttctcttccc       c.-121

 .         .         .         .         .         .                g.5177
 cgaggctatgtccacccggtgcggcgaggcgggcagagccagaggcacgcagccgcacag       c.-61

 .         .         .         .         .         .                g.5237
 gggctacagagcccagaatcagccctacaagatgcacttaggacccccgcggctggaaga       c.-1

          .         .         .         .         .         .       g.5297
 ATGAGCTTGTCCTTCCTCCTCCTCCTCTTCTTCAGCCACCTGATCCTCAGCGCCTGGGCT       c.60
 M  S  L  S  F  L  L  L  L  F  F  S  H  L  I  L  S  A  W  A         p.20

          .         .         .         .         .         .       g.5357
 CACGGGGAGAAGCGTCTCGCCCCCAAAGGGCAACCCGGACCCGCTGCCACTGATAGGAAC       c.120
 H  G  E  K  R  L  A  P  K  G  Q  P  G  P  A  A  T  D  R  N         p.40

          .         .         .         .         .         .       g.5417
 CCTAGAGGCTCCAGCAGCAGACAGAGCAGCAGTAGCGCTATGTCTTCCTCTTCTGCCTCC       c.180
 P  R  G  S  S  S  R  Q  S  S  S  S  A  M  S  S  S  S  A  S         p.60

          .         .         .         .         .         .       g.5477
 TCCTCCCCCGCAGCTTCTCTGGGCAGCCAAGGAAGTGGCTTGGAGCAGAGCAGTTTCCAG       c.240
 S  S  P  A  A  S  L  G  S  Q  G  S  G  L  E  Q  S  S  F  Q         p.80

          .         .         .         .         .         .       g.5537
 TGGAGCCCCTCGGGGCGCCGGACCGGCAGCCTCTACTGCAGAGTGGGCATCGGTTTCCAT       c.300
 W  S  P  S  G  R  R  T  G  S  L  Y  C  R  V  G  I  G  F  H         p.100

          .         .         .         .         .      | 02  .    g.13326
 CTGCAGATCTACCCGGATGGCAAAGTCAATGGATCCCACGAAGCCAATATGTTAA | GTGTT    c.360
 L  Q  I  Y  P  D  G  K  V  N  G  S  H  E  A  N  M  L  S |   V      p.120

          .         .         .         .         .         .       g.13386
 TTGGAAATATTTGCTGTGTCTCAGGGGATTGTAGGAATACGAGGAGTTTTCAGCAACAAA       c.420
 L  E  I  F  A  V  S  Q  G  I  V  G  I  R  G  V  F  S  N  K         p.140

          .         .         .          | 03        .         .    g.24758
 TTTTTAGCGATGTCAAAAAAAGGAAAACTCCATGCAAGT | GCCAAGTTCACAGATGACTGC    c.480
 F  L  A  M  S  K  K  G  K  L  H  A  S   | A  K  F  T  D  D  C      p.160

          .         .         .         .         .         .       g.24818
 AAGTTCAGGGAGCGTTTTCAAGAAAATAGCTATAATACCTATGCCTCAGCAATACATAGA       c.540
 K  F  R  E  R  F  Q  E  N  S  Y  N  T  Y  A  S  A  I  H  R         p.180

          .         .         .         .         .         .       g.24878
 ACTGAAAAAACAGGGCGGGAGTGGTATGTGGCCCTGAATAAAAGAGGAAAAGCCAAACGA       c.600
 T  E  K  T  G  R  E  W  Y  V  A  L  N  K  R  G  K  A  K  R         p.200

          .         .         .         .         .         .       g.24938
 GGGTGCAGCCCCCGGGTTAAACCCCAGCATATCTCTACCCATTTTCTGCCAAGATTCAAG       c.660
 G  C  S  P  R  V  K  P  Q  H  I  S  T  H  F  L  P  R  F  K         p.220

          .         .         .         .         .         .       g.24998
 CAGTCGGAGCAGCCAGAACTTTCTTTCACGGTTACTGTTCCTGAAAAGAAAAAGCCACCT       c.720
 Q  S  E  Q  P  E  L  S  F  T  V  T  V  P  E  K  K  K  P  P         p.240

          .         .         .         .         .         .       g.25058
 AGCCCTATCAAGCCAAAGATTCCCCTTTCTGCACCTCGGAAAAATACCAACTCAGTGAAA       c.780
 S  P  I  K  P  K  I  P  L  S  A  P  R  K  N  T  N  S  V  K         p.260

          .         .                                               g.25085
 TACAGACTCAAGTTTCGCTTTGGATAA                                        c.807
 Y  R  L  K  F  R  F  G  X                                          p.268

          .         .         .         .         .         .       g.25145
 tattcctcttggccttgtgagaaaccattctttcccctcaggagtttctataggtgtctt       c.*60

          .         .         .         .         .         .       g.25205
 cagagttctgaagaaaaattactggacacagcttcagctatacttacactgtattgaagt       c.*120

          .         .         .         .         .         .       g.25265
 cacgtcatttgtttcaatgtgactgaaacaaaatgttttttgataggaaggaaactggaa       c.*180

          .         .         .         .         .         .       g.25325
 ttctttgtactaatacagggagcacactccttcagttcagcaagacataaagccttttgc       c.*240

          .         .         .         .         .         .       g.25385
 tttatgcttgagggatatttagaactttgtattttcggaaagttaaataacagggactac       c.*300

          .         .         .         .         .         .       g.25445
 gtatttttctgacttttacagattaacctgaaagaacatacatgatacatttttattttt       c.*360

          .         .         .         .         .         .       g.25505
 ggtttccaaagaatattttgatgcagataaaatattttgttaacttttgtttttttttgt       c.*420

          .         .         .         .         .         .       g.25565
 ttgttttcttaaaagtacctctgcattgagcatattttcttacttttattattttaatta       c.*480

          .         .         .         .         .         .       g.25625
 atatgacataagcaatcattttatgctgtttatgaattataaatgtgtttatagctcatt       c.*540

          .         .         .         .         .         .       g.25685
 tgtaatatggaaatcttttacatttttcctattcactgcacttttttattgtttttattt       c.*600

          .         .         .         .         .         .       g.25745
 ctagccatacctcagataatatgtttagttttacattttaaaatgtttaaattctctttc       c.*660

          .         .         .         .         .         .       g.25805
 acagcaccaaaggctcagcttggatttgtgtgtatgtgtatgtcaattcatgacattatg       c.*720

          .         .         .         .         .         .       g.25865
 tggaatcctaaacctttggtggctgggatatgatgggttagaagcaaggagaaaatataa       c.*780

          .         .         .         .         .         .       g.25925
 ggactttttgatggaattaaatgtgggaggtaaggaaaaggatttagaggtaaaagtaca       c.*840

          .         .         .         .         .         .       g.25985
 ctaagtttgcaacatttattgagatctaagtctgtcttgccttcatttctctttttatct       c.*900

          .         .         .         .         .         .       g.26045
 cccccttgccctcattcttgaacagctggaggaatacattttattctgtccatgaagcat       c.*960

          .         .         .         .         .         .       g.26105
 acactatgaaattcaagtgcttaaaaatacttctatgactctctgctatcccactgtata       c.*1020

          .         .         .         .         .         .       g.26165
 gatccacagggagcaaacacttagaaatgatagagaactgaaggagatcaatggtttaac       c.*1080

          .         .         .         .         .         .       g.26225
 agttatccatgccaagtcccattgtcagaaatattcttattactcagtcaaacactcttt       c.*1140

          .         .         .         .         .         .       g.26285
 gagcttcccttcctaaaggtaaccaatccagtgaatagatgtgcccttttataaggaaac       c.*1200

          .         .         .         .         .         .       g.26345
 ttctgatgtttattaaaaaaactggccttttgatagaggtaacttaatttgggaatttgt       c.*1260

          .         .         .         .         .         .       g.26405
 tgtgttgaaatggcatttaatttcaacctaaatactgactgctggacataaatcacagaa       c.*1320

          .         .         .         .         .         .       g.26465
 aatttaacttaagaaaatttacaaaatttattctcaggtaatcattttaataaagttctg       c.*1380

          .         .         .         .         .         .       g.26525
 caaaatacacgtttatcttacattcagaaatgtggcaaaaaaggcatagctaaaggctaa       c.*1440

          .         .         .         .         .         .       g.26585
 acatatggctttagtagtaacaaaagggttcatagaaacttcatggtttgcatttaaaca       c.*1500

          .         .         .         .         .         .       g.26645
 tgtttaaagtgtacttataaactatttttttcttaaagcaaactatgatttattttggtg       c.*1560

          .         .         .         .         .         .       g.26705
 cacaaatacaaagtggaaacttaccaaaattgaactagctaccatataagcagattgctt       c.*1620

          .         .         .         .         .         .       g.26765
 taatttgatgggaaaatagtacacacatatatataacaaataatatattaaaaaacccat       c.*1680

          .         .         .         .         .         .       g.26825
 ccatcaactaaaacattatatgtatacatcagtatagtgttttattataaagccaattat       c.*1740

          .         .         .         .         .         .       g.26885
 ctgattaagcattctttccactgaatgcataatgtttaaatagcataaaatgaaatgcta       c.*1800

          .         .         .         .         .         .       g.26945
 caaaaattgaactaatttatactttaaagtatttctgggttaaatgaaacaatgaaattt       c.*1860

          .         .         .         .         .         .       g.27005
 tttagtatgttcaactctcatccaaatggcatatgaccctgtttacacagcctaaagcta       c.*1920

          .         .         .         .         .         .       g.27065
 aaaatattactctagtttattctaatctattgttaagtattgtgcactgtataccaagtt       c.*1980

          .         .         .         .         .         .       g.27125
 cttagggcacatgaaaaattttagctgccaaacaggaactagtaaacatatgttcctaat       c.*2040

          .         .         .         .         .         .       g.27185
 aagtgaagggaaagataataatgatggtcaacaataagccacgtcaatgcataagttgta       c.*2100

          .         .         .         .         .         .       g.27245
 taggctaaatgttgcttgtaggctacattaaactcaaatgtaatagtttatcttatactc       c.*2160

          .         .         .         .         .         .       g.27305
 ctggtttgatttgattagcatattaacgtgaaagtaggatagctactaaatatatattat       c.*2220

          .         .         .         .         .         .       g.27365
 gcaagtcaggaatcattaatttcaaaatttaaagccatgctaaaattaaaaagaaaatat       c.*2280

          .         .         .         .         .         .       g.27425
 taaattacacaattacacttgtctttactggccatacaaaatgatttttttttttttttt       c.*2340

          .         .         .         .         .         .       g.27485
 gagacagagtcttgctctgtcaccaggctggagtgcagtggcatgatctcggctcactgc       c.*2400

          .         .         .         .         .         .       g.27545
 aacctccaactccctggtttaagggattctcctgcctcagcctcccaagtagctgggatt       c.*2460

          .         .         .         .         .         .       g.27605
 acagactcatgccaccacgccagctaatttttgtatttttagtagagacggggtttcacc       c.*2520

          .         .         .         .         .         .       g.27665
 atgttggtcaggatggtctcaatcctggcctcttgatagtcctgacctcatgatctgccc       c.*2580

          .         .         .         .         .         .       g.27725
 acctcggcctccccaaagtgctgggattacaggtacaatgatgtataattaatgcttagt       c.*2640

          .         .         .         .         .         .       g.27785
 gaagcataaagttacctacatcaattaattaaatgaacttatgtacagaaaacatgtata       c.*2700

          .         .         .         .         .         .       g.27845
 aatataagtctatactaatgcttacaactttctaagagggttcttgcttatgtagctttt       c.*2760

          .         .         .         .         .         .       g.27905
 tattattttaagtaactagaaccaccaaatatcaaataaaattatttggttatggttatg       c.*2820

          .         .         .         .         .         .       g.27965
 ttcatctaaacacaacaataacttttatattaatatttaggagtctattttgtctatagg       c.*2880

          .         .         .         .         .         .       g.28025
 tgacaaacatctccagactaacatgtcagttttatcaattatattatgtttaattattta       c.*2940

          .         .         .         .         .         .       g.28085
 agatttctttatgtggaacatctatagagataaatagaaattttcaataagatgtagtaa       c.*3000

          .         .         .         .         .         .       g.28145
 cactgtgatttatctttcaagagtctctcttcacttccttctaaagagactaatttgaga       c.*3060

          .         .         .         .         .         .       g.28205
 gtacaggtgcatattaattttcttggttctttcagctgaattatattggtccagaagttc       c.*3120

          .         .         .         .         .         .       g.28265
 aaaatcatgtgacaataataagggatactgacagaagttatttccaagtttgtgtatata       c.*3180

          .         .         .         .         .         .       g.28325
 ttataaaaattacatatataaaactaaggcttttatttctgttatttttaagcttttatt       c.*3240

          .         .         .         .         .         .       g.28385
 tcttgtagctaaaaataaaacatcataaatctggtaggtaaatttcttattaaatcaatc       c.*3300

          .         .         .         .         .         .       g.28445
 ttgaaatagaaaatgtaataactttcttaccattaacattttttacccttccatagaagg       c.*3360

          .         .         .         .         .         .       g.28505
 gagggaataaatcatgacttatcccattttcaataacaaaacgaaactatggcactaacc       c.*3420

          .         .         .         .         .         .       g.28565
 aaaaacttgcattctggcataatttttacagttgcagagaattgtttctgggctcattaa       c.*3480

          .         .         .         .         .         .       g.28625
 aaaaagtagtattgcagacattgctgcaatgggaagcagacaataacttcttaaaggaat       c.*3540

          .         .         .         .         .         .       g.28685
 tctacacctcctttaagatttacttaattgctacatctaaattctgataatttaaaatcc       c.*3600

          .         .         .         .         .         .       g.28745
 attttaggtgataaaattttttaaaagttttgaaggaaacctctggataaatggacaagg       c.*3660

          .         .         .         .         .         .       g.28805
 cctaatttttttttgtagtcaatccaactgtactggccaatttttgaaataagattatat       c.*3720

          .         .         .         .         .         .       g.28865
 gattaggtattagcagagacaaagagttacctcctccatcttactctgccctatttgaaa       c.*3780

          .         .         .         .         .         .       g.28925
 gtctcaggggagaaaagggaacaagatgctgatccaacctgagtggagtcaggtgaggca       c.*3840

          .         .         .         .         .         .       g.28985
 tctttacatctaagaatttttttttaaattttattattattatacttcaagttctagggt       c.*3900

          .         .         .         .         .         .       g.29045
 acatgtccacaatgcacatgtctgtcacacatgcacacatgtgccatgctggtgtgctgc       c.*3960

          .         .         .         .         .         .       g.29105
 acccaccaacctgtcatccagcattaggtatatctcctaatgctatccctcccctctcca       c.*4020

          .         .         .         .         .         .       g.29165
 cccaccccacagcaggccccggtatgtgatgttccccttcgtgtgtccatgtgttcttat       c.*4080

          .         .         .         .         .         .       g.29225
 tgttcaattcccacctatgagtgagaatatgtggtgtttggtttttggtccttgcaatag       c.*4140

          .         .         .         .         .         .       g.29285
 tttgctgagaatgatggtttccagcttcatccatgtccctacaaagaacatgaactcatc       c.*4200

          .         .         .         .         .         .       g.29345
 attttttatggctgcatagtattccatggtgtatatgtgccacattttcttaatccagtc       c.*4260

          .         .         .         .         .         .       g.29405
 tatcattgttggacatttgggttggttccaagtctttgctattgtgaatagtgctgcaat       c.*4320

          .         .                                               g.29430
 aaacatatgtgtgcatgtgtcttta                                          c.*4345

 (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 5 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.