replication factor C (activator 1) 4, 37kDa (RFC4) - coding DNA reference sequence

(used for variant description)

(last modified September 10, 2024)

This file was created to facilitate the description of sequence variants on transcript NM_002916.3 in the RFC4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering RFC4 transcript NM_002916.3.

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

 (upstream sequence)
                     .         .         .         .                g.5237
                  accggcgtattcccgccctgcttttcgcccgccgttccgtggc       c.-181

 .         .         .         .         .         .                g.5297
 gggaactgaggcgactgtggggacatcagtgatcgtaagtctcctgggcccgttattctc       c.-121

 .         .         .         .         .         .                g.5357
 agattaggtgacggagctaagacttcgagaccatctcgtcctttttgtatcgcggaaacc       c.-61

 .         .         .         .         .         | 02             g.6982
 tgaggaacgagccggcggcggtgacctgcacgagaagccaggctaactg | ggtgaagtacc    c.-1

          .         .         .         .         .         .       g.7042
 ATGCAAGCATTTCTTAAAGGTACATCCATCAGTACTAAACCCCCGCTGACCAAGGATCGA       c.60
 M  Q  A  F  L  K  G  T  S  I  S  T  K  P  P  L  T  K  D  R         p.20

          .         .         .         .         .         .       g.7102
 GGAGTAGCTGCCAGTGCGGGAAGTAGCGGAGAGAACAAGAAAGCCAAACCCGTTCCCTGG       c.120
 G  V  A  A  S  A  G  S  S  G  E  N  K  K  A  K  P  V  P  W         p.40

          .  | 03      .         .         .         .         .    g.10549
 GTGGAAAAATA | TCGCCCAAAATGTGTGGATGAAGTTGCTTTCCAGGAAGAAGTGGTTGCA    c.180
 V  E  K  Y  |  R  P  K  C  V  D  E  V  A  F  Q  E  E  V  V  A      p.60

          .         .         . | 04       .         .         .    g.14111
 GTGCTGAAAAAATCTTTAGAAGGAGCAGAT | CTTCCTAATCTCTTGTTTTACGGACCACCT    c.240
 V  L  K  K  S  L  E  G  A  D   | L  P  N  L  L  F  Y  G  P  P      p.80

          .         .         .         .         . | 05       .    g.16928
 GGAACTGGAAAAACATCCACTATTTTGGCAGCAGCTAGAGAACTCTTTGG | GCCTGAACTT    c.300
 G  T  G  K  T  S  T  I  L  A  A  A  R  E  L  F  G  |  P  E  L      p.100

          .         .         .         .         .         .       g.16988
 TTCCGATTAAGAGTTCTTGAGTTAAATGCATCTGATGAACGTGGAATACAAGTAGTTCGA       c.360
 F  R  L  R  V  L  E  L  N  A  S  D  E  R  G  I  Q  V  V  R         p.120

          .         .         .         .         . | 06       .    g.18758
 GAGAAAGTGAAAAATTTTGCTCAATTAACTGTGTCAGGAAGTCGCTCAGA | TGGGAAGCCG    c.420
 E  K  V  K  N  F  A  Q  L  T  V  S  G  S  R  S  D  |  G  K  P      p.140

          .         .         .         .         .         .       g.18818
 TGTCCGCCTTTTAAGATTGTGATTCTGGATGAAGCAGATTCTATGACCTCAGCTGCTCAG       c.480
 C  P  P  F  K  I  V  I  L  D  E  A  D  S  M  T  S  A  A  Q         p.160

          .         .         .         .         .         .       g.18878
 GCAGCTTTAAGACGTACCATGGAGAAGGAGTCGAAAACCACCCGATTCTGTCTTATCTGT       c.540
 A  A  L  R  R  T  M  E  K  E  S  K  T  T  R  F  C  L  I  C         p.180

          .     | 07   .         .         .         .         .    g.19131
 AACTATGTCAGTCG | AATAATTGAACCCCTGACCTCTAGATGTTCAAAATTCCGCTTCAAG    c.600
 N  Y  V  S  R  |  I  I  E  P  L  T  S  R  C  S  K  F  R  F  K      p.200

          .         .         .         .         .         .       g.19191
 CCTCTGTCAGATAAAATTCAACAGCAGCGATTACTAGACATTGCCAAGAAGGAAAATGTC       c.660
 P  L  S  D  K  I  Q  Q  Q  R  L  L  D  I  A  K  K  E  N  V         p.220

          .      | 08  .         .         .         .         .    g.19890
 AAAATTAGTGATGAG | GGAATAGCTTATCTTGTTAAAGTGTCAGAAGGAGACTTAAGAAAA    c.720
 K  I  S  D  E   | G  I  A  Y  L  V  K  V  S  E  G  D  L  R  K      p.240

          .         .         .         .         .         .       g.19950
 GCCATTACATTTCTTCAAAGCGCTACTCGATTAACAGGTGGAAAGGAGATCACAGAGAAA       c.780
 A  I  T  F  L  Q  S  A  T  R  L  T  G  G  K  E  I  T  E  K         p.260

          .         .  | 09      .         .         .         .    g.21328
 GTGATTACAGACATTGCCGGG | GTAATACCAGCTGAGAAAATTGATGGAGTATTTGCTGCC    c.840
 V  I  T  D  I  A  G   | V  I  P  A  E  K  I  D  G  V  F  A  A      p.280

          .         .         .         .   | 10     .         .    g.21458
 TGTCAGAGTGGCTCTTTTGACAAACTAGAAGCTGTGGTCAAG | GATTTAATAGATGAGGGT    c.900
 C  Q  S  G  S  F  D  K  L  E  A  V  V  K   | D  L  I  D  E  G      p.300

          .         .         .         .         .         .       g.21518
 CATGCAGCAACTCAGCTCGTCAATCAACTCCATGATGTGGTTGTAGAAAATAACTTATCT       c.960
 H  A  A  T  Q  L  V  N  Q  L  H  D  V  V  V  E  N  N  L  S         p.320

          .         .         .       | 11 .         .         .    g.21655
 GATAAACAGAAGTCTATTATCACAGAAAAACTTGCC | GAAGTTGACAAATGCCTAGCAGAT    c.1020
 D  K  Q  K  S  I  I  T  E  K  L  A   | E  V  D  K  C  L  A  D      p.340

          .         .         .         .         .         .       g.21715
 GGTGCTGATGAACATTTGCAACTCATCAGCCTTTGTGCAACTGTGATGCAGCAGTTATCT       c.1080
 G  A  D  E  H  L  Q  L  I  S  L  C  A  T  V  M  Q  Q  L  S         p.360

          .                                                         g.21727
 CAGAATTGTTAA                                                       c.1092
 Q  N  C  X                                                         p.363

          .         .         .         .         .         .       g.21787
 cgtgaatatatctggatggggggttttgtaaataatgaagttgtaataaaaataaaatga       c.*60

          .                                                         g.21804
 ccaaaagcacctttaaa                                                  c.*77

 (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 Replication factor C (activator 1) 4, 37kDa 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.