complement factor H-related 1 (CFHR1) - coding DNA reference sequence

(used for variant description)

(last modified March 3, 2023)

This file was created to facilitate the description of sequence variants on transcript NM_002113.2 in the CFHR1 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000001.10, covering CFHR1 transcript NM_002113.2.

Please note that introns are available by clicking on the exon numbers above the sequence. 
 (upstream sequence)
           .         .         .         .         .                g.5054
       cagttagtacactgaaattcaaagtcatgctcataactgttaatgaaagcagat       c.-61

 .         .         .         .         .         .                g.5114
 tcaaagcaacaccaccaccactgaagtatttttagttatataagattggaactaccaagc       c.-1

          .         .         .         .         .         | 02    g.10748
 ATGTGGCTCCTGGTCAGTGTAATTCTAATCTCACGGATATCCTCTGTTGGGGGAGAAG | CA    c.60
 M  W  L  L  V  S  V  I  L  I  S  R  I  S  S  V  G  G  E  A |       p.20

          .         .         .         .         .         .       g.10808
 ACATTTTGTGATTTTCCAAAAATAAACCATGGAATTCTATATGATGAAGAAAAATATAAG       c.120
 T  F  C  D  F  P  K  I  N  H  G  I  L  Y  D  E  E  K  Y  K         p.40

          .         .         .         .         .         .       g.10868
 CCATTTTCCCAGGTTCCTACAGGGGAAGTTTTCTATTACTCCTGTGAATATAATTTTGTG       c.180
 P  F  S  Q  V  P  T  G  E  V  F  Y  Y  S  C  E  Y  N  F  V         p.60

          .         .         .         .         .         .       g.10928
 TCTCCTTCAAAATCATTTTGGACTCGCATAACATGCACAGAAGAAGGATGGTCACCAACA       c.240
 S  P  S  K  S  F  W  T  R  I  T  C  T  E  E  G  W  S  P  T         p.80

          .    | 03    .         .         .         .         .    g.12145
 CCAAAGTGTCTCA | GACTGTGTTTCTTTCCTTTTGTGGAAAATGGTCATTCTGAATCTTCA    c.300
 P  K  C  L  R |   L  C  F  F  P  F  V  E  N  G  H  S  E  S  S      p.100

          .         .         .         .         .         .       g.12205
 GGACAAACACATCTGGAAGGTGATACTGTGCAAATTATTTGCAACACAGGATACAGACTT       c.360
 G  Q  T  H  L  E  G  D  T  V  Q  I  I  C  N  T  G  Y  R  L         p.120

          .         .         .         .         .         .       g.12265
 CAAAACAATGAGAACAACATTTCATGTGTAGAACGGGGCTGGTCCACCCCTCCCAAATGC       c.420
 Q  N  N  E  N  N  I  S  C  V  E  R  G  W  S  T  P  P  K  C         p.140

          . | 04       .         .         .         .         .    g.13389
 AGGTCCACTG | ACACTTCCTGTGTGAATCCGCCCACAGTACAAAATGCTCATATACTGTCG    c.480
 R  S  T  D |   T  S  C  V  N  P  P  T  V  Q  N  A  H  I  L  S      p.160

          .         .         .         .         .         .       g.13449
 AGACAGATGAGTAAATATCCATCTGGTGAGAGAGTACGTTATGAATGTAGGAGCCCTTAT       c.540
 R  Q  M  S  K  Y  P  S  G  E  R  V  R  Y  E  C  R  S  P  Y         p.180

          .         .         .         .         .         .       g.13509
 GAAATGTTTGGGGATGAAGAAGTGATGTGTTTAAATGGAAACTGGACAGAACCACCTCAA       c.600
 E  M  F  G  D  E  E  V  M  C  L  N  G  N  W  T  E  P  P  Q         p.200

         | 05.         .         .         .         .         .    g.15822
 TGCAAAG | ATTCTACGGGAAAATGTGGGCCCCCTCCACCTATTGACAATGGGGACATTACT    c.660
 C  K  D |   S  T  G  K  C  G  P  P  P  P  I  D  N  G  D  I  T      p.220

          .         .         .         .         .         .       g.15882
 TCATTCCCGTTGTCAGTATATGCTCCAGCTTCATCAGTTGAGTACCAATGCCAGAACTTG       c.720
 S  F  P  L  S  V  Y  A  P  A  S  S  V  E  Y  Q  C  Q  N  L         p.240

          .         .         .         .         .         .       g.15942
 TATCAACTTGAGGGTAACAAGCGAATAACATGTAGAAATGGACAATGGTCAGAACCACCA       c.780
 Y  Q  L  E  G  N  K  R  I  T  C  R  N  G  Q  W  S  E  P  P         p.260

          . | 06       .         .         .         .         .    g.17116
 AAATGCTTAC | ATCCGTGTGTAATATCCCGAGAAATTATGGAAAATTATAACATAGCATTA    c.840
 K  C  L  H |   P  C  V  I  S  R  E  I  M  E  N  Y  N  I  A  L      p.280

          .         .         .         .         .         .       g.17176
 AGGTGGACAGCCAAACAGAAGCTTTATTTGAGAACAGGTGAATCAGCTGAATTTGTGTGT       c.900
 R  W  T  A  K  Q  K  L  Y  L  R  T  G  E  S  A  E  F  V  C         p.300

          .         .         .         .         .         .       g.17236
 AAACGGGGATATCGTCTTTCATCACGTTCTCACACATTGCGAACAACATGTTGGGATGGG       c.960
 K  R  G  Y  R  L  S  S  R  S  H  T  L  R  T  T  C  W  D  G         p.320

          .         .         .                                     g.17269
 AAACTGGAGTATCCAACTTGTGCAAAAAGATAG                                  c.993
 K  L  E  Y  P  T  C  A  K  R  X                                    p.330

          .         .         .         .         .         .       g.17329
 aatcaatcataaaatgcacacctttattcagaactttagtattaaatcagttcttaattt       c.*60

          .         .         .         .         .         .       g.17389
 catttttaagtattgttttactcctttttattcatacgtaaaattttggattaatttgtg       c.*120

          .         .         .         .         .         .       g.17449
 aaaatgtaattataagctgagaccggtggctctcttcttaaaagcaccatattaaaactt       c.*180

          .                                                         g.17459
 ggaaaactaa                                                         c.*190

 (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 Complement factor H-related 1 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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