(used for variant description)
(last modified April 19, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000064.2 in the C3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering C3 transcript NM_000064.2.
(upstream sequence)
g.5002
ca c.-61
. . . . . . g.5062
ctcctccccatcctctccctctgtccctctgtccctctgaccctgcactgtcccagcacc c.-1
. . . . . . g.5122
ATGGGACCCACCTCAGGTCCCAGCCTGCTGCTCCTGCTACTAACCCACCTCCCCCTGGCT c.60
M G P T S G P S L L L L L L T H L P L A p.20
. | 02 . . . . . g.6294
CTGGGGAGTCCCAT | GTACTCTATCATCACCCCCAACATCTTGCGGCTGGAGAGCGAGGAG c.120
L G S P M | Y S I I T P N I L R L E S E E p.40
. . . . . . g.6354
ACCATGGTGCTGGAGGCCCACGACGCGCAAGGGGATGTTCCAGTCACTGTTACTGTCCAC c.180
T M V L E A H D A Q G D V P V T V T V H p.60
. . . . . . g.6414
GACTTCCCAGGCAAAAAACTAGTGCTGTCCAGTGAGAAGACTGTGCTGACCCCTGCCACC c.240
D F P G K K L V L S S E K T V L T P A T p.80
. . | 03. . . . g.7272
AACCACATGGGCAACGTCACCTTCACG | ATCCCAGCCAACAGGGAGTTCAAGTCAGAAAAG c.300
N H M G N V T F T | I P A N R E F K S E K p.100
. . . . . . g.7332
GGGCGCAACAAGTTCGTGACCGTGCAGGCCACCTTCGGGACCCAAGTGGTGGAGAAGGTG c.360
G R N K F V T V Q A T F G T Q V V E K V p.120
. . . . . . g.7392
GTGCTGGTCAGCCTGCAGAGCGGGTACCTCTTCATCCAGACAGACAAGACCATCTACACC c.420
V L V S L Q S G Y L F I Q T D K T I Y T p.140
. | 04 . . . . . g.7534
CCTGGCTCCACAG | TTCTCTATCGGATCTTCACCGTCAACCACAAGCTGCTACCCGTGGGC c.480
P G S T V | L Y R I F T V N H K L L P V G p.160
. . | 05 . . . . g.11241
CGGACGGTCATGGTCAACATTGAG | AACCCGGAAGGCATCCCGGTCAAGCAGGACTCCTTG c.540
R T V M V N I E | N P E G I P V K Q D S L p.180
. . . . . | 06 g.11404
TCTTCTCAGAACCAGCTTGGCGTCTTGCCCTTGTCTTGGGACATTCCGGAACTCGTCAA | C c.600
S S Q N Q L G V L P L S W D I P E L V N | p.200
. . . . . . g.11464
ATGGGCCAGTGGAAGATCCGAGCCTACTATGAAAACTCACCACAGCAGGTCTTCTCCACT c.660
M G Q W K I R A Y Y E N S P Q Q V F S T p.220
. . | 07 . . . . g.11607
GAGTTTGAGGTGAAGGAGTACG | TGCTGCCCAGTTTCGAGGTCATAGTGGAGCCTACAGAG c.720
E F E V K E Y V | L P S F E V I V E P T E p.240
. . . . . | 08 . g.12149
AAATTCTACTACATCTATAACGAGAAGGGCCTGGAGGTCACCATCACCGCCAG | GTTCCTC c.780
K F Y Y I Y N E K G L E V T I T A R | F L p.260
. . . . . . g.12209
TACGGGAAGAAAGTGGAGGGAACTGCCTTTGTCATCTTCGGGATCCAGGATGGCGAACAG c.840
Y G K K V E G T A F V I F G I Q D G E Q p.280
. . . | 09 . . . g.12360
AGGATTTCCCTGCCTGAATCCCTCAAGCGCATTCCG | ATTGAGGATGGCTCGGGGGAGGTT c.900
R I S L P E S L K R I P | I E D G S G E V p.300
. . . . . . g.12420
GTGCTGAGCCGGAAGGTACTGCTGGACGGGGTGCAGAACCCCCGAGCAGAAGACCTGGTG c.960
V L S R K V L L D G V Q N P R A E D L V p.320
. . . . | 10 . . g.13045
GGGAAGTCTTTGTACGTGTCTGCCACCGTCATCTTGCACTCAG | GCAGTGACATGGTGCAG c.1020
G K S L Y V S A T V I L H S G | S D M V Q p.340
. . . . . . g.13105
GCAGAGCGCAGCGGGATCCCCATCGTGACCTCTCCCTACCAGATCCACTTCACCAAGACA c.1080
A E R S G I P I V T S P Y Q I H F T K T p.360
. . . | 11 . . g.13266
CCCAAGTACTTCAAACCAGGAATGCCCTTTGACCTCATG | GTGTTCGTGACGAACCCTGAT c.1140
P K Y F K P G M P F D L M | V F V T N P D p.380
. . . . . . g.13326
GGCTCTCCAGCCTACCGAGTCCCCGTGGCAGTCCAGGGCGAGGACACTGTGCAGTCTCTA c.1200
G S P A Y R V P V A V Q G E D T V Q S L p.400
. . . . . . g.13386
ACCCAGGGAGATGGCGTGGCCAAACTCAGCATCAACACACACCCCAGCCAGAAGCCCTTG c.1260
T Q G D G V A K L S I N T H P S Q K P L p.420
| 12 . . . . . g.14506
AGCATCACG | GTGCGCACGAAGAAGCAGGAGCTCTCGGAGGCAGAGCAGGCTACCAGGACC c.1320
S I T | V R T K K Q E L S E A E Q A T R T p.440
. . . . . . g.14566
ATGCAGGCTCTGCCCTACAGCACCGTGGGCAACTCCAACAATTACCTGCATCTCTCAGTG c.1380
M Q A L P Y S T V G N S N N Y L H L S V p.460
. . . . . . g.14626
CTACGTACAGAGCTCAGACCCGGGGAGACCCTCAACGTCAACTTCCTCCTGCGAATGGAC c.1440
L R T E L R P G E T L N V N F L L R M D p.480
. . . | 13 . . g.14827
CGCGCCCACGAGGCCAAGATCCGCTACTACACCTACCTG | ATCATGAACAAGGGCAGGCTG c.1500
R A H E A K I R Y Y T Y L | I M N K G R L p.500
. . . . . . g.14887
TTGAAGGCGGGACGCCAGGTGCGAGAGCCCGGCCAGGACCTGGTGGTGCTGCCCCTGTCC c.1560
L K A G R Q V R E P G Q D L V V L P L S p.520
. . . . . . g.14947
ATCACCACCGACTTCATCCCTTCCTTCCGCCTGGTGGCGTACTACACGCTGATCGGTGCC c.1620
I T T D F I P S F R L V A Y Y T L I G A p.540
. . . . . . g.15007
AGCGGCCAGAGGGAGGTGGTGGCCGACTCCGTGTGGGTGGACGTCAAGGACTCCTGCGTG c.1680
S G Q R E V V A D S V W V D V K D S C V p.560
| 14 . . . . . . g.15863
GGCTCG | CTGGTGGTAAAAAGCGGCCAGTCAGAAGACCGGCAGCCTGTACCTGGGCAGCAG c.1740
G S | L V V K S G Q S E D R Q P V P G Q Q p.580
. . . . . . g.15923
ATGACCCTGAAGATAGAGGGTGACCACGGGGCCCGGGTGGTACTGGTGGCCGTGGACAAG c.1800
M T L K I E G D H G A R V V L V A V D K p.600
. . . . | 15 . . g.17737
GGCGTGTTCGTGCTGAATAAGAAGAACAAACTGACGCAGAGTAAG | ATCTGGGACGTGGTG c.1860
G V F V L N K K N K L T Q S K | I W D V V p.620
. . . . . . g.17797
GAGAAGGCAGACATCGGCTGCACCCCGGGCAGTGGGAAGGATTACGCCGGTGTCTTCTCC c.1920
E K A D I G C T P G S G K D Y A G V F S p.640
. . . . . | 16 . g.18119
GACGCAGGGCTGACCTTCACGAGCAGCAGTGGCCAGCAGACCGCCCAGAGGGCAG | AACTT c.1980
D A G L T F T S S S G Q Q T A Q R A E | L p.660
. . . . . . g.18179
CAGTGCCCGCAGCCAGCCGCCCGCCGACGCCGTTCCGTGCAGCTCACGGAGAAGCGAATG c.2040
Q C P Q P A A R R R R S V Q L T E K R M p.680
| 17. . . . . . g.18431
GACAAAG | TCGGCAAGTACCCCAAGGAGCTGCGCAAGTGCTGCGAGGACGGCATGCGGGAG c.2100
D K V | G K Y P K E L R K C C E D G M R E p.700
. . . . . . g.18491
AACCCCATGAGGTTCTCGTGCCAGCGCCGGACCCGTTTCATCTCCCTGGGCGAGGCGTGC c.2160
N P M R F S C Q R R T R F I S L G E A C p.720
. . . . . . g.18551
AAGAAGGTCTTCCTGGACTGCTGCAACTACATCACAGAGCTGCGGCGGCAGCACGCGCGG c.2220
K K V F L D C C N Y I T E L R R Q H A R p.740
. . | 18 . . . . g.23107
GCCAGCCACCTGGGCCTGGCCAGGA | GTAACCTGGATGAGGACATCATTGCAGAAGAGAAC c.2280
A S H L G L A R S | N L D E D I I A E E N p.760
. . . . . . g.23167
ATCGTTTCCCGAAGTGAGTTCCCAGAGAGCTGGCTGTGGAACGTTGAGGACTTGAAAGAG c.2340
I V S R S E F P E S W L W N V E D L K E p.780
. | 19 . . . . . g.23485
CCACCGAAAAATGG | AATCTCTACGAAGCTCATGAATATATTTTTGAAAGACTCCATCACC c.2400
P P K N G | I S T K L M N I F L K D S I T p.800
. . . . | 20 . . g.27877
ACGTGGGAGATTCTGGCTGTGAGCATGTCGGACAAGAAAG | GGATCTGTGTGGCAGACCCC c.2460
T W E I L A V S M S D K K G | I C V A D P p.820
. . . . . . g.27937
TTCGAGGTCACAGTAATGCAGGACTTCTTCATCGACCTGCGGCTACCCTACTCTGTTGTT c.2520
F E V T V M Q D F F I D L R L P Y S V V p.840
. . . . . . g.27997
CGAAACGAGCAGGTGGAAATCCGAGCCGTTCTCTACAATTACCGGCAGAACCAAGAGCTC c.2580
R N E Q V E I R A V L Y N Y R Q N Q E L p.860
| 21 . . . . . . g.28152
AAG | GTGAGGGTGGAACTACTCCACAATCCAGCCTTCTGCAGCCTGGCCACCACCAAGAGG c.2640
K | V R V E L L H N P A F C S L A T T K R p.880
. . . . . . g.28212
CGTCACCAGCAGACCGTAACCATCCCCCCCAAGTCCTCGTTGTCCGTTCCATATGTCATC c.2700
R H Q Q T V T I P P K S S L S V P Y V I p.900
. . . . . . g.28272
GTGCCGCTAAAGACCGGCCTGCAGGAAGTGGAAGTCAAGGCTGCTGTCTACCATCATTTC c.2760
V P L K T G L Q E V E V K A A V Y H H F p.920
. . . | 22 . . . g.29016
ATCAGTGACGGTGTCAGGAAGTCCCTGAAGGTCGTG | CCGGAAGGAATCAGAATGAACAAA c.2820
I S D G V R K S L K V V | P E G I R M N K p.940
. . . . | 23 . . g.29203
ACTGTGGCTGTTCGCACCCTGGATCCAGAACGCCTGGGCCGTG | AAGGAGTGCAGAAAGAG c.2880
T V A V R T L D P E R L G R E | G V Q K E p.960
. . . . . . g.29263
GACATCCCACCTGCAGACCTCAGTGACCAAGTCCCGGACACCGAGTCTGAGACCAGAATT c.2940
D I P P A D L S D Q V P D T E S E T R I p.980
. | 24 . . . . . g.31067
CTCCTGCAAG | GGACCCCAGTGGCCCAGATGACAGAGGATGCCGTCGACGCGGAACGGCTG c.3000
L L Q G | T P V A Q M T E D A V D A E R L p.1000
. . . . . . g.31127
AAGCACCTCATTGTGACCCCCTCGGGCTGCGGGGAACAGAACATGATCGGCATGACGCCC c.3060
K H L I V T P S G C G E Q N M I G M T P p.1020
. . . . . . g.31187
ACGGTCATCGCTGTGCATTACCTGGATGAAACGGAGCAGTGGGAGAAGTTCGGCCTAGAG c.3120
T V I A V H Y L D E T E Q W E K F G L E p.1040
. . . | 25 . . . g.32190
AAGCGGCAGGGGGCCTTGGAGCTCATCAAGAAGG | GGTACACCCAGCAGCTGGCCTTCAGA c.3180
K R Q G A L E L I K K G | Y T Q Q L A F R p.1060
. . . . . | 26 . g.32578
CAACCCAGCTCTGCCTTTGCGGCCTTCGTGAAACGGGCACCCAGCACCTG | GCTGACCGCC c.3240
Q P S S A F A A F V K R A P S T W | L T A p.1080
. . . . . . g.32638
TACGTGGTCAAGGTCTTCTCTCTGGCTGTCAACCTCATCGCCATCGACTCCCAAGTCCTC c.3300
Y V V K V F S L A V N L I A I D S Q V L p.1100
. . . . . . g.32698
TGCGGGGCTGTTAAATGGCTGATCCTGGAGAAGCAGAAGCCCGACGGGGTCTTCCAGGAG c.3360
C G A V K W L I L E K Q K P D G V F Q E p.1120
. . . | 27 . . . g.34954
GATGCGCCCGTGATACACCAAGAAATGATT | GGTGGATTACGGAACAACAACGAGAAAGAC c.3420
D A P V I H Q E M I | G G L R N N N E K D p.1140
. . . . . . g.35014
ATGGCCCTCACGGCCTTTGTTCTCATCTCGCTGCAGGAGGCTAAAGATATTTGCGAGGAG c.3480
M A L T A F V L I S L Q E A K D I C E E p.1160
| 28 . . . . . g.38800
CAGGTCAAC | AGCCTGCCAGGCAGCATCACTAAAGCAGGAGACTTCCTTGAAGCCAACTAC c.3540
Q V N | S L P G S I T K A G D F L E A N Y p.1180
. . . . . . g.38860
ATGAACCTACAGAGATCCTACACTGTGGCCATTGCTGGCTATGCTCTGGCCCAGATGGGC c.3600
M N L Q R S Y T V A I A G Y A L A Q M G p.1200
. . . . | 29 . . g.39378
AGGCTGAAGGGGCCTCTTCTTAACAAATTTCTGACCACAGCCAAAG | ATAAGAACCGCTGG c.3660
R L K G P L L N K F L T T A K D | K N R W p.1220
. . . . . . g.39438
GAGGACCCTGGTAAGCAGCTCTACAACGTGGAGGCCACATCCTATGCCCTCTTGGCCCTA c.3720
E D P G K Q L Y N V E A T S Y A L L A L p.1240
. . . . . . g.39498
CTGCAGCTAAAAGACTTTGACTTTGTGCCTCCCGTCGTGCGTTGGCTCAATGAACAGAGA c.3780
L Q L K D F D F V P P V V R W L N E Q R p.1260
. . . | 30 . . . g.40535
TACTACGGTGGTGGCTATGGCTCTACCCAG | GCCACCTTCATGGTGTTCCAAGCCTTGGCT c.3840
Y Y G G G Y G S T Q | A T F M V F Q A L A p.1280
. . . . . . g.40595
CAATACCAAAAGGACGCCCCTGACCACCAGGAACTGAACCTTGATGTGTCCCTCCAACTG c.3900
Q Y Q K D A P D H Q E L N L D V S L Q L p.1300
. . . . . . g.40655
CCCAGCCGCAGCTCCAAGATCACCCACCGTATCCACTGGGAATCTGCCAGCCTCCTGCGA c.3960
P S R S S K I T H R I H W E S A S L L R p.1320
| 31 . . . . . g.40868
TCAGAAGAG | ACCAAGGAAAATGAGGGTTTCACAGTCACAGCTGAAGGAAAAGGCCAAGGC c.4020
S E E | T K E N E G F T V T A E G K G Q G p.1340
| 32 . . . . . g.41052
ACCTTGTCG | GTGGTGACAATGTACCATGCTAAGGCCAAAGATCAACTCACCTGTAATAAA c.4080
T L S | V V T M Y H A K A K D Q L T C N K p.1360
. . . . | 33 . . g.41232
TTCGACCTCAAGGTCACCATAAAACCAGCACCGGAAACAG | AAAAGAGGCCTCAGGATGCC c.4140
F D L K V T I K P A P E T E | K R P Q D A p.1380
. . . | 34 . . . g.43450
AAGAACACTATGATCCTTGAGATCTGTACCAG | GTACCGGGGAGACCAGGATGCCACTATG c.4200
K N T M I L E I C T R | Y R G D Q D A T M p.1400
. . . . . . g.43510
TCTATATTGGACATATCCATGATGACTGGCTTTGCTCCAGACACAGATGACCTGAAGCAG c.4260
S I L D I S M M T G F A P D T D D L K Q p.1420
| 35 . . . . . . g.43681
| CTGGCCAATGGTGTTGACAGATACATCTCCAAGTATGAGCTGGACAAAGCCTTCTCCGAT c.4320
| L A N G V D R Y I S K Y E L D K A F S D p.1440
. . . | 36 . . . g.45418
AGGAACACCCTCATCATCTACCTGGACAAG | GTCTCACACTCTGAGGATGACTGTCTAGCT c.4380
R N T L I I Y L D K | V S H S E D D C L A p.1460
. . . . . . g.45478
TTCAAAGTTCACCAATACTTTAATGTAGAGCTTATCCAGCCTGGAGCAGTCAAGGTCTAC c.4440
F K V H Q Y F N V E L I Q P G A V K V Y p.1480
. | 37 . . . . . g.46199
GCCTATTACAACCTGG | AGGAAAGCTGTACCCGGTTCTACCATCCGGAAAAGGAGGATGGA c.4500
A Y Y N L E | E S C T R F Y H P E K E D G p.1500
. . . . | 38 . . g.46457
AAGCTGAACAAGCTCTGCCGTGATGAACTGTGCCGCTGTGCTGAGG | AGAATTGCTTCATA c.4560
K L N K L C R D E L C R C A E E | N C F I p.1520
. . . . . . g.46517
CAAAAGTCGGATGACAAGGTCACCCTGGAAGAACGGCTGGACAAGGCCTGTGAGCCAGGA c.4620
Q K S D D K V T L E E R L D K A C E P G p.1540
. | 39 . . . . . g.47246
GTGGACTATG | TGTACAAGACCCGACTGGTCAAGGTTCAGCTGTCCAATGACTTTGACGAG c.4680
V D Y V | Y K T R L V K V Q L S N D F D E p.1560
. . . | 40 . . . g.47390
TACATCATGGCCATTGAGCAGACCATCAAGTCAG | GCTCGGATGAGGTGCAGGTTGGACAG c.4740
Y I M A I E Q T I K S G | S D E V Q V G Q p.1580
. . . . . . g.47450
CAGCGCACGTTCATCAGCCCCATCAAGTGCAGAGAAGCCCTGAAGCTGGAGGAGAAGAAA c.4800
Q R T F I S P I K C R E A L K L E E K K p.1600
. . . . . | 41 . g.47638
CACTACCTCATGTGGGGTCTCTCCTCCGATTTCTGGGGAGAGAAGCCCAA | CCTCAGCTAC c.4860
H Y L M W G L S S D F W G E K P N | L S Y p.1620
. . . . . . g.47698
ATCATCGGGAAGGACACTTGGGTGGAGCACTGGCCCGAGGAGGACGAATGCCAAGACGAA c.4920
I I G K D T W V E H W P E E D E C Q D E p.1640
. . . . . . g.47758
GAGAACCAGAAACAATGCCAGGACCTCGGCGCCTTCACCGAGAGCATGGTTGTCTTTGGG c.4980
E N Q K Q C Q D L G A F T E S M V V F G p.1660
. g.47770
TGCCCCAACTGA c.4992
C P N X p.1663
. . . . g.47817
ccacacccccattcccccactccagataaagcttcagttatatctca c.*47
(downstream sequence)
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