neutrophil cytosolic factor 4, 40kDa (NCF4) - coding DNA reference sequence

(used for variant description)

(last modified August 12, 2022)

This file was created to facilitate the description of sequence variants on transcript NM_000631.4 in the NCF4 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000022.10, covering NCF4 transcript NM_000631.4.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
                                                                    g.5004
                                                         ggag       c.-181

 .         .         .         .         .         .                g.5064
 gaggagcctctgccagactggagagaagcaggcctgagcctccccaaaggcagctcctgg       c.-121

 .         .         .         .         .         .                g.5124
 ggactcccaggaccacaggctgagacgagacgcagggtggctggaggaagtgagaggtga       c.-61

 .         .         .         .         .         .                g.5184
 actcagcctgggactggctgggcgagactctccacctgctccctgggaccatcgcccacc       c.-1

          .         .         .   | 02     .         .         .    g.8085
 ATGGCTGTGGCCCAGCAGCTGCGGGCCGAGAG | TGACTTTGAACAGCTTCCGGATGATGTT    c.60
 M  A  V  A  Q  Q  L  R  A  E  S  |  D  F  E  Q  L  P  D  D  V      p.20

          .         .         .         .         .        | 03.    g.8934
 GCCATCTCGGCCAACATTGCTGACATCGAGGAGAAGAGAGGCTTCACCAGCCACTTT | GTT    c.120
 A  I  S  A  N  I  A  D  I  E  E  K  R  G  F  T  S  H  F   | V      p.40

          .         .         .         .         .         .       g.8994
 TTCGTCATCGAGGTGAAGACAAAAGGAGGATCCAAGTACCTCATCTACCGCCGCTACCGC       c.180
 F  V  I  E  V  K  T  K  G  G  S  K  Y  L  I  Y  R  R  Y  R         p.60

          .         .         .         .         .         .       g.9054
 CAGTTCCATGCTTTGCAGAGCAAGCTGGAGGAGCGCTTCGGGCCAGACAGCAAGAGCAGT       c.240
 Q  F  H  A  L  Q  S  K  L  E  E  R  F  G  P  D  S  K  S  S         p.80

          .         .         .  | 04      .         .         .    g.11433
 GCCCTGGCCTGTACCCTGCCCACACTCCCAG | CCAAAGTCTACGTGGGTGTGAAACAGGAG    c.300
 A  L  A  C  T  L  P  T  L  P  A |   K  V  Y  V  G  V  K  Q  E      p.100

          .         .         .         .   | 05     .         .    g.14445
 ATCGCCGAGATGCGGATACCTGCCCTCAACGCCTACATGAAG | AGCCTGCTCAGCCTGCCG    c.360
 I  A  E  M  R  I  P  A  L  N  A  Y  M  K   | S  L  L  S  L  P      p.120

          .         .         .         .         .         .       g.14505
 GTCTGGGTGCTGATGGATGAGGACGTCCGGATCTTCTTTTACCAGTCGCCCTATGACTCA       c.420
 V  W  V  L  M  D  E  D  V  R  I  F  F  Y  Q  S  P  Y  D  S         p.140

          .         .         .         .         . | 06       .    g.15674
 GAGCAGGTGCCCCAGGCACTCCGCCGGCTCCGCCCGCGCACCCGGAAAGT | CAAGAGCGTG    c.480
 E  Q  V  P  Q  A  L  R  R  L  R  P  R  T  R  K  V  |  K  S  V      p.160

          .         .         .         .         | 07         .    g.16351
 TCCCCACAGGGCAACAGCGTTGACCGCATGGCAGCTCCGAGAGCAGAG | GCTCTATTTGAC    c.540
 S  P  Q  G  N  S  V  D  R  M  A  A  P  R  A  E   | A  L  F  D      p.180

          .         .         .         .         .         .       g.16411
 TTCACTGGAAACAGCAAACTGGAGCTGAATTTCAAAGCTGGAGATGTGATCTTCCTCCTC       c.600
 F  T  G  N  S  K  L  E  L  N  F  K  A  G  D  V  I  F  L  L         p.200

          .         .        | 08.         .         .         .    g.19698
 AGTCGGATCAACAAAGACTGGCTGGAG | GGCACTGTCCGGGGAGCCACGGGCATCTTCCCT    c.660
 S  R  I  N  K  D  W  L  E   | G  T  V  R  G  A  T  G  I  F  P      p.220

          .         .         .         .         .         .       g.19758
 CTCTCCTTCGTGAAGATCCTCAAAGACTTCCCTGAGGAGGACGACCCCACCAACTGGCTG       c.720
 L  S  F  V  K  I  L  K  D  F  P  E  E  D  D  P  T  N  W  L         p.240

          .         .         .         | 09         .         .    g.20063
 CGTTGCTACTACTACGAAGACACCATCAGCACCATCAA | GGACATCGCGGTGGAGGAAGAT    c.780
 R  C  Y  Y  Y  E  D  T  I  S  T  I  K  |  D  I  A  V  E  E  D      p.260

          .         .         .         .     | 10   .         .    g.21656
 CTCAGCAGCACTCCCCTATTGAAAGACCTGCTGGAGCTCACAAG | GCGGGAGTTCCAGAGA    c.840
 L  S  S  T  P  L  L  K  D  L  L  E  L  T  R  |  R  E  F  Q  R      p.280

          .         .         .         .         .         .       g.21716
 GAGGACATAGCTCTGAATTACCGGGACGCTGAGGGGGATCTGGTTCGGCTGCTGTCGGAT       c.900
 E  D  I  A  L  N  Y  R  D  A  E  G  D  L  V  R  L  L  S  D         p.300

          .         .         .         .         .         .       g.21776
 GAGGACGTAGCGCTCATGGTGCGGCAGGCTCGTGGCCTCCCCTCCCAGAAGCGCCTCTTC       c.960
 E  D  V  A  L  M  V  R  Q  A  R  G  L  P  S  Q  K  R  L  F         p.320

          .         .         .         .         .         .       g.21836
 CCCTGGAAGCTGCACATCACGCAGAAGGACAACTACAGGGTCTACAACACGATGCCATGA       c.1020
 P  W  K  L  H  I  T  Q  K  D  N  Y  R  V  Y  N  T  M  P  X         p.339

          .         .         .         .         .         .       g.21896
 gctgacggtgtccctggagcagtgaggggacaccagcaaaaaccttcagctctcagagga       c.*60

          .         .         .         .         .         .       g.21956
 gattgggaccaggaaaacctgggaggatgggcagacttcctgtctttgaggctaatggac       c.*120

          .         .         .         .         .         .       g.22016
 ccgtggggcttgtaatctgtctctttctactatttacatctgatttaaataaaccattcc       c.*180

          .                                                         g.22030
 atctgaaaggggca                                                     c.*194

 (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 10th nucleotide is indicated by a "." above the sequence. The Neutrophil cytosolic factor 4, 40kDa protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th 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.

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