(used for variant description)
(last modified May 14, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000492.3 in the CFTR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016465.3, covering CFTR transcript NM_000492.3.
(upstream sequence)
. g.5012
aattggaagcaa c.-121
. . . . . . g.5072
atgacatcacagcaggtcagagaaaaagggttgagcggcaggcacccagagtagtaggtc c.-61
. . . . . . g.5132
tttggcattaggagcttgagcccagacggccctagcagggaccccagcgcccgagagacc c.-1
. . . . . | 02 . g.29297
ATGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAG | CTGGACC c.60
M Q R S P L E K A S V V S K L F F S | W T p.20
. . . . . . g.29357
AGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATATACCAAATC c.120
R P I L R K G Y R Q R L E L S D I Y Q I p.40
. . . . | 03 . . g.34087
CCTTCTGTTGATTCTGCTGACAATCTATCTGAAAAATTGGAAAG | AGAATGGGATAGAGAG c.180
P S V D S A D N L S E K L E R | E W D R E p.60
. . . . . . g.34147
CTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGA c.240
L A S K K N P K L I N A L R R C F F W R p.80
. . . | 04 . . . g.55963
TTTATGTTCTATGGAATCTTTTTATATTTAGGG | GAAGTCACCAAAGCAGTACAGCCTCTC c.300
F M F Y G I F L Y L G | E V T K A V Q P L p.100
. . . . . . g.56023
TTACTGGGAAGAATCATAGCTTCCTATGACCCGGATAACAAGGAGGAACGCTCTATCGCG c.360
L L G R I I A S Y D P D N K E E R S I A p.120
. . . . . . g.56083
ATTTATCTAGGCATAGGCTTATGCCTTCTCTTTATTGTGAGGACACTGCTCCTACACCCA c.420
I Y L G I G L C L L F I V R T L L L H P p.140
. . . . . . g.56143
GCCATTTTTGGCCTTCATCACATTGGAATGCAGATGAGAATAGCTATGTTTAGTTTGATT c.480
A I F G L H H I G M Q M R I A M F S L I p.160
| 05 . . . . . g.59364
TATAAGAAG | ACTTTAAAGCTGTCAAGCCGTGTTCTAGATAAAATAAGTATTGGACAACTT c.540
Y K K | T L K L S S R V L D K I S I G Q L p.180
. . . | 06 . . g.60306
GTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATGAA | GGACTTGCATTGGCACATTTC c.600
V S L L S N N L N K F D E | G L A L A H F p.200
. . . . . . g.60366
GTGTGGATCGCTCCTTTGCAAGTGGCACTCCTCATGGGGCTAATCTGGGAGTTGTTACAG c.660
V W I A P L Q V A L L M G L I W E L L Q p.220
. . . . . . g.60426
GCGTCTGCCTTCTGTGGACTTGGTTTCCTGATAGTCCTTGCCCTTTTTCAGGCTGGGCTA c.720
A S A F C G L G F L I V L A L F Q A G L p.240
. . | 07 . . . . g.61622
GGGAGAATGATGATGAAGTACAG | AGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTG c.780
G R M M M K Y R | D Q R A G K I S E R L V p.260
. . . . . . g.61682
ATTACCTCAGAAATGATTGAAAATATCCAATCTGTTAAGGCATACTGCTGGGAAGAAGCA c.840
I T S E M I E N I Q S V K A Y C W E E A p.280
. . | 08 . . . g.65168
ATGGAAAAAATGATTGAAAACTTAAGACA | AACAGAACTGAAACTGACTCGGAAGGCAGCC c.900
M E K M I E N L R Q | T E L K L T R K A A p.300
. . . . . . g.65228
TATGTGAGATACTTCAATAGCTCAGCCTTCTTCTTCTCAGGGTTCTTTGTGGTGTTTTTA c.960
Y V R Y F N S S A F F F S G F F V V F L p.320
. . . . . . g.65288
TCTGTGCTTCCCTATGCACTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCATC c.1020
S V L P Y A L I K G I I L R K I F T T I p.340
. . . . . . g.65348
TCATTCTGCATTGTTCTGCGCATGGCGGTCACTCGGCAATTTCCCTGGGCTGTACAAACA c.1080
S F C I V L R M A V T R Q F P W A V Q T p.360
. . . | 09 . . . g.67077
TGGTATGACTCTCTTGGAGCAATAAACAAAATACAG | GATTTCTTACAAAAGCAAGAATAT c.1140
W Y D S L G A I N K I Q | D F L Q K Q E Y p.380
. . . . . . g.67137
AAGACATTGGAATATAACTTAACGACTACAGAAGTAGTGATGGAGAATGTAACAGCCTTC c.1200
K T L E Y N L T T T E V V M E N V T A F p.400
| 10 . . . . . g.73729
TGGGAGGAG | GGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAA c.1260
W E E | G F G E L F E K A K Q N N N N R K p.420
. . . . . . g.73789
ACTTCTAATGGTGATGACAGCCTCTTCTTCAGTAATTTCTCACTTCTTGGTACTCCTGTC c.1320
T S N G D D S L F F S N F S L L G T P V p.440
. . . . . . g.73849
CTGAAAGATATTAATTTCAAGATAGAAAGAGGACAGTTGTTGGCGGTTGCTGGATCCACT c.1380
L K D I N F K I E R G Q L L A V A G S T p.460
. | 11 . . . . . g.84549
GGAGCAGGCAAG | ACTTCACTTCTAATGGTGATTATGGGAGAACTGGAGCCTTCAGAGGGT c.1440
G A G K | T S L L M V I M G E L E P S E G p.480
. . . . . . g.84609
AAAATTAAGCACAGTGGAAGAATTTCATTCTGTTCTCAGTTTTCCTGGATTATGCCTGGC c.1500
K I K H S G R I S F C S Q F S W I M P G p.500
. . . . . . g.84669
ACCATTAAAGAAAATATCATCTTTGGTGTTTCCTATGATGAATATAGATACAGAAGCGTC c.1560
T I K E N I I F G V S Y D E Y R Y R S V p.520
. . | 12 . . . . g.112812
ATCAAAGCATGCCAACTAGAAGAG | GACATCTCCAAGTTTGCAGAGAAAGACAATATAGTT c.1620
I K A C Q L E E | D I S K F A E K D N I V p.540
. . . . . | 13 g.115391
CTTGGAGAAGGTGGAATCACACTGAGTGGAGGTCAACGAGCAAGAATTTCTTTAGCAAG | A c.1680
L G E G G I T L S G G Q R A R I S L A R | p.560
. . . . . . g.115451
GCAGTATACAAAGATGCTGATTTGTATTTATTAGACTCTCCTTTTGGATACCTAGATGTT c.1740
A V Y K D A D L Y L L D S P F G Y L D V p.580
. . | 14 . . . . g.117005
TTAACAGAAAAAGAAATATTTGAAAG | CTGTGTCTGTAAACTGATGGCTAACAAAACTAGG c.1800
L T E K E I F E S | C V C K L M A N K T R p.600
. . . . . . g.117065
ATTTTGGTCACTTCTAAAATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCAT c.1860
I L V T S K M E H L K K A D K I L I L H p.620
. . . . . . g.117125
GAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAAATCTACAGCCAGACTTT c.1920
E G S S Y F Y G T F S E L Q N L Q P D F p.640
. . . . . . g.117185
AGCTCAAAACTCATGGGATGTGATTCTTTCGACCAATTTAGTGCAGAAAGAAGAAATTCA c.1980
S S K L M G C D S F D Q F S A E R R N S p.660
. . . . . . g.117245
ATCCTAACTGAGACCTTACACCGTTTCTCATTAGAAGGAGATGCTCCTGTCTCCTGGACA c.2040
I L T E T L H R F S L E G D A P V S W T p.680
. . . . . . g.117305
GAAACAAAAAAACAATCTTTTAAACAGACTGGAGAGTTTGGGGAAAAAAGGAAGAATTCT c.2100
E T K K Q S F K Q T G E F G E K R K N S p.700
. . . . . . g.117365
ATTCTCAATCCAATCAACTCTATACGAAAATTTTCCATTGTGCAAAAGACTCCCTTACAA c.2160
I L N P I N S I R K F S I V Q K T P L Q p.720
. . . . . . g.117425
ATGAATGGCATCGAAGAGGATTCTGATGAGCCTTTAGAGAGAAGGCTGTCCTTAGTACCA c.2220
M N G I E E D S D E P L E R R L S L V P p.740
. . . . . . g.117485
GATTCTGAGCAGGGAGAGGCGATACTGCCTCGCATCAGCGTGATCAGCACTGGCCCCACG c.2280
D S E Q G E A I L P R I S V I S T G P T p.760
. . . . . . g.117545
CTTCAGGCACGAAGGAGGCAGTCTGTCCTGAACCTGATGACACACTCAGTTAACCAAGGT c.2340
L Q A R R R Q S V L N L M T H S V N Q G p.780
. . . . . . g.117605
CAGAACATTCACCGAAAGACAACAGCATCCACACGAAAAGTGTCACTGGCCCCTCAGGCA c.2400
Q N I H R K T T A S T R K V S L A P Q A p.800
. . . . . . g.117665
AACTTGACTGAACTGGATATATATTCAAGAAGGTTATCTCAAGAAACTGGCTTGGAAATA c.2460
N L T E L D I Y S R R L S Q E T G L E I p.820
. . . | 15 . . . g.119997
AGTGAAGAAATTAACGAAGAAGACTTAAAG | GAGTGCTTTTTTGATGATATGGAGAGCATA c.2520
S E E I N E E D L K | E C F F D D M E S I p.840
. . . . . . g.120057
CCAGCAGTGACTACATGGAACACATACCTTCGATATATTACTGTCCACAAGAGCTTAATT c.2580
P A V T T W N T Y L R Y I T V H K S L I p.860
. . . | 16 . . g.127884
TTTGTGCTAATTTGGTGCTTAGTAATTTTTCTGGCAGAG | GTGGCTGCTTCTTTGGTTGTG c.2640
F V L I W C L V I F L A E | V A A S L V V p.880
. | 17. . . . . g.128612
CTGTGGCTCCTTGGAAA | CACTCCTCTTCAAGACAAAGGGAATAGTACTCATAGTAGAAAT c.2700
L W L L G N | T P L Q D K G N S T H S R N p.900
. . . . . . g.128672
AACAGCTATGCAGTGATTATCACCAGCACCAGTTCGTATTATGTGTTTTACATTTACGTG c.2760
N S Y A V I I T S T S S Y Y V F Y I Y V p.920
. . . . . . g.128732
GGAGTAGCCGACACTTTGCTTGCTATGGGATTCTTCAGAGGTCTACCACTGGTGCATACT c.2820
G V A D T L L A M G F F R G L P L V H T p.940
. . . . . . g.128792
CTAATCACAGTGTCGAAAATTTTACACCACAAAATGTTACATTCTGTTCTTCAAGCACCT c.2880
L I T V S K I L H H K M L H S V L Q A P p.960
. . | 18 . . . g.131743
ATGTCAACCCTCAACACGTTGAAAGCAG | GTGGGATTCTTAATAGATTCTCCAAAGATATA c.2940
M S T L N T L K A G | G I L N R F S K D I p.980
. . . . | 19 . g.135568
GCAATTTTGGATGACCTTCTGCCTCTTACCATATTTGACTTCATCCAG | TTGTTATTAATT c.3000
A I L D D L L P L T I F D F I Q | L L L I p.1000
. . . . . . g.135628
GTGATTGGAGCTATAGCAGTTGTCGCAGTTTTACAACCCTACATCTTTGTTGCAACAGTG c.3060
V I G A I A V V A V L Q P Y I F V A T V p.1020
. . . . . . g.135688
CCAGTGATAGTGGCTTTTATTATGTTGAGAGCATATTTCCTCCAAACCTCACAGCAACTC c.3120
P V I V A F I M L R A Y F L Q T S Q Q L p.1040
. | 20 . . . . g.136659
AAACAACTGGAATCTGAAG | GCAGGAGTCCAATTTTCACTCATCTTGTTACAAGCTTAAAA c.3180
K Q L E S E G | R S P I F T H L V T S L K p.1060
. . . . . . g.136719
GGACTATGGACACTTCGTGCCTTCGGACGGCAGCCTTACTTTGAAACTCTGTTCCACAAA c.3240
G L W T L R A F G R Q P Y F E T L F H K p.1080
. . . . . . g.136779
GCTCTGAATTTACATACTGCCAACTGGTTCTTGTACCTGTCAACACTGCGCTGGTTCCAA c.3300
A L N L H T A N W F L Y L S T L R W F Q p.1100
. . . . . . g.136839
ATGAGAATAGAAATGATTTTTGTCATCTTCTTCATTGCTGTTACCTTCATTTCCATTTTA c.3360
M R I E M I F V I F F I A V T F I S I L p.1120
| 21. . . . . . g.139703
ACAACAG | GAGAAGGAGAAGGAAGAGTTGGTATTATCCTGACTTTAGCCATGAATATCATG c.3420
T T G | E G E G R V G I I L T L A M N I M p.1140
. . . . | 22 . g.152571
AGTACATTGCAGTGGGCTGTAAACTCCAGCATAGATGTGGATAGCTTG | ATGCGATCTGTG c.3480
S T L Q W A V N S S I D V D S L | M R S V p.1160
. . . . . . g.152631
AGCCGAGTCTTTAAGTTCATTGACATGCCAACAGAAGGTAAACCTACCAAGTCAACCAAA c.3540
S R V F K F I D M P T E G K P T K S T K p.1180
. . . . . . g.152691
CCATACAAGAATGGCCAACTCTCGAAAGTTATGATTATTGAGAATTCACACGTGAAGAAA c.3600
P Y K N G Q L S K V M I I E N S H V K K p.1200
. . . . . . g.152751
GATGACATCTGGCCCTCAGGGGGCCAAATGACTGTCAAAGATCTCACAGCAAAATACACA c.3660
D D I W P S G G Q M T V K D L T A K Y T p.1220
. . . . . | 23. g.167478
GAAGGTGGAAATGCCATATTAGAGAACATTTCCTTCTCAATAAGTCCTGGCCAGAGG | GTG c.3720
E G G N A I L E N I S F S I S P G Q R | V p.1240
. . . . . . g.167538
GGCCTCTTGGGAAGAACTGGATCAGGGAAGAGTACTTTGTTATCAGCTTTTTTGAGACTA c.3780
G L L G R T G S G K S T L L S A F L R L p.1260
. . . . . . g.167598
CTGAACACTGAAGGAGAAATCCAGATCGATGGTGTGTCTTGGGATTCAATAACTTTGCAA c.3840
L N T E G E I Q I D G V S W D S I T L Q p.1280
. . . | 24 . . . g.177906
CAGTGGAGGAAAGCCTTTGGAGTGATACCACAG | AAAGTATTTATTTTTTCTGGAACATTT c.3900
Q W R K A F G V I P Q | K V F I F S G T F p.1300
. . . . . . g.177966
AGAAAAAACTTGGATCCCTATGAACAGTGGAGTGATCAAGAAATATGGAAAGTTGCAGAT c.3960
R K N L D P Y E Q W S D Q E I W K V A D p.1320
| 25 . . . . . . g.189782
GAG | GTTGGGCTCAGATCTGTGATAGAACAGTTTCCTGGGAAGCTTGACTTTGTCCTTGTG c.4020
E | V G L R S V I E Q F P G K L D F V L V p.1340
. . . . . . g.189842
GATGGGGGCTGTGTCCTAAGCCATGGCCACAAGCAGTTGATGTGCTTGGCTAGATCTGTT c.4080
D G G C V L S H G H K Q L M C L A R S V p.1360
. . . . . | 26 . g.190500
CTCAGTAAGGCGAAGATCTTGCTGCTTGATGAACCCAGTGCTCATTTGGATCCAGT | AACA c.4140
L S K A K I L L L D E P S A H L D P V | T p.1380
. . . . . . g.190560
TACCAAATAATTAGAAGAACTCTAAAACAAGCATTTGCTGATTGCACAGTAATTCTCTGT c.4200
Y Q I I R R T L K Q A F A D C T V I L C p.1400
. . . . | 27 . . g.191963
GAACACAGGATAGAAGCAATGCTGGAATGCCAACAATTTTTG | GTCATAGAAGAGAACAAA c.4260
E H R I E A M L E C Q Q F L | V I E E N K p.1420
. . . . . . g.192023
GTGCGGCAGTACGATTCCATCCAGAAACTGCTGAACGAGAGGAGCCTCTTCCGGCAAGCC c.4320
V R Q Y D S I Q K L L N E R S L F R Q A p.1440
. . . . . . g.192083
ATCAGCCCCTCCGACAGGGTGAAGCTCTTTCCCCACCGGAACTCAAGCAAGTGCAAGTCT c.4380
I S P S D R V K L F P H R N S S K C K S p.1460
. . . . . . g.192143
AAGCCCCAGATTGCTGCTCTGAAAGAGGAGACAGAAGAAGAGGTGCAAGATACAAGGCTT c.4440
K P Q I A A L K E E T E E E V Q D T R L p.1480
g.192146
TAG c.4443
X p.1480
. . . . . . g.192206
agagcagcataaatgttgacatgggacatttgctcatggaattggagctcgtgggacagt c.*60
. . . . . . g.192266
cacctcatggaattggagctcgtggaacagttacctctgcctcagaaaacaaggatgaat c.*120
. . . . . . g.192326
taagtttttttttaaaaaagaaacatttggtaaggggaattgaggacactgatatgggtc c.*180
. . . . . . g.192386
ttgataaatggcttcctggcaatagtcaaattgtgtgaaaggtacttcaaatccttgaag c.*240
. . . . . . g.192446
atttaccacttgtgttttgcaagccagattttcctgaaaacccttgccatgtgctagtaa c.*300
. . . . . . g.192506
ttggaaaggcagctctaaatgtcaatcagcctagttgatcagcttattgtctagtgaaac c.*360
. . . . . . g.192566
tcgttaatttgtagtgttggagaagaactgaaatcatacttcttagggttatgattaagt c.*420
. . . . . . g.192626
aatgataactggaaacttcagcggtttatataagcttgtattcctttttctctcctctcc c.*480
. . . . . . g.192686
ccatgatgtttagaaacacaactatattgtttgctaagcattccaactatctcatttcca c.*540
. . . . . . g.192746
agcaagtattagaataccacaggaaccacaagactgcacatcaaaatatgccccattcaa c.*600
. . . . . . g.192806
catctagtgagcagtcaggaaagagaacttccagatcctggaaatcagggttagtattgt c.*660
. . . . . . g.192866
ccaggtctaccaaaaatctcaatatttcagataatcacaatacatcccttacctgggaaa c.*720
. . . . . . g.192926
gggctgttataatctttcacaggggacaggatggttcccttgatgaagaagttgatatgc c.*780
. . . . . . g.192986
cttttcccaactccagaaagtgacaagctcacagacctttgaactagagtttagctggaa c.*840
. . . . . . g.193046
aagtatgttagtgcaaattgtcacaggacagcccttctttccacagaagctccaggtaga c.*900
. . . . . . g.193106
gggtgtgtaagtagataggccatgggcactgtgggtagacacacatgaagtccaagcatt c.*960
. . . . . . g.193166
tagatgtataggttgatggtggtatgttttcaggctagatgtatgtacttcatgctgtct c.*1020
. . . . . . g.193226
acactaagagagaatgagagacacactgaagaagcaccaatcatgaattagttttatatg c.*1080
. . . . . . g.193286
cttctgttttataattttgtgaagcaaaattttttctctaggaaatatttattttaataa c.*1140
. . . . . . g.193346
tgtttcaaacatatataacaatgctgtattttaaaagaatgattatgaattacatttgta c.*1200
. . . . . . g.193406
taaaataatttttatatttgaaatattgactttttatggcactagtatttctatgaaata c.*1260
. . . . . . g.193466
ttatgttaaaactgggacaggggagaacctagggtgatattaaccaggggccatgaatca c.*1320
. . . . . . g.193526
ccttttggtctggagggaagccttggggctgatgcagttgttgcccacagctgtatgatt c.*1380
. . . . . . g.193586
cccagccagcacagcctcttagatgcagttctgaagaagatggtaccaccagtctgactg c.*1440
. . . . . . g.193646
tttccatcaagggtacactgccttctcaactccaaactgactcttaagaagactgcatta c.*1500
. . . . . g.193703
tatttattactgtaagaaaatatcacttgtcaataaaatccatacatttgtgtgaaa c.*1557
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 04
©2004-2013 Leiden University Medical Center