(used for variant description)
(last modified October 14, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001830.3 in the CLCN4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012496.1, covering CLCN4 transcript NM_001830.3.
(upstream sequence)
. g.5010
tcccagccgg c.-421
. . . . . . g.5070
cctccggggccctccgggctgaaatcgacatttgcctctggcaggaaaatgagcttgtca c.-361
. . . . . . g.5130
gtttctgcctccattagaccctcaacccaaaggagcaggagatttcggtagcgttttaac c.-301
. . . | 02 . . . g.6378
tttatctcagaatctgaaagcggaag | gccaggcaagctgcacacatcaagcgaaacgcct c.-241
. . . . . . g.6438
gaggggcggccagcgcgagggtttctggccatcgaccctcacctcccgggacttccaggg c.-181
. . . . . . g.6498
tcttccccccaccccgcgcacacctccctgcctcgccccgagggcgtcacgtggcagcgt c.-121
. . . . . . g.6558
ggggcccgcctcctggtgatgtcacggcgctcgcagccgtcgcgctgaagaaaggatgct c.-61
. . . . . | 03 g.33088
cgaggatgctgtccaggtgggcggccgcgggcgcgatgcggcactgcag | gtgtaattagc c.-1
. . . . . . g.33148
ATGGTCAATGCGGGAGCGATGAGTGGCTCTGGAAACCTGATGGATTTCCTCGATGAGCCG c.60
M V N A G A M S G S G N L M D F L D E P p.20
. . . . . . g.33208
TTCCCTGATGTGGGGACGTATGAGGACTTCCACACCATCGACTGGCTAAGGGAAAAGTCA c.120
F P D V G T Y E D F H T I D W L R E K S p.40
. . | 04 . . . . g.35606
CGGGACACCGACAGACACAGGAAG | ATCACCAGCAAGAGCAAGGAGTCCATATGGGAGTTC c.180
R D T D R H R K | I T S K S K E S I W E F p.60
. . . . . . g.35666
ATCAAGAGCCTGCTGGATGCCTGGTCGGGATGGGTGGTGATGCTGCTCATCGGCCTGCTG c.240
I K S L L D A W S G W V V M L L I G L L p.80
| 05 . . . . . . g.43022
GCGG | GCACCTTGGCTGGGGTCATCGATCTCGCCGTGGACTGGATGACGGACCTGAAGGAG c.300
A G | T L A G V I D L A V D W M T D L K E p.100
. . . . . . g.43082
GGGGTCTGCCTGTCTGCCTTCTGGTATAGCCATGAGCAGTGTTGCTGGACTTCTAACGAG c.360
G V C L S A F W Y S H E Q C C W T S N E p.120
. . . . . . g.43142
ACCACTTTTGAGGACAGAGACAAGTGTCCCCTGTGGCAGAAATGGTCGGAGCTGCTGGTG c.420
T T F E D R D K C P L W Q K W S E L L V p.140
. | 06 . . . . . g.46042
AATCAGTCAGAG | GGTGCCAGTGCTTACATTCTGAATTACTTAATGTACATCCTATGGGCG c.480
N Q S E | G A S A Y I L N Y L M Y I L W A p.160
. . . . . . g.46102
CTGCTGTTTGCATTTTTGGCTGTCTCCCTGGTGCGTGTATTTGCACCATATGCCTGTGGC c.540
L L F A F L A V S L V R V F A P Y A C G p.180
. | 07 . . . . . g.54458
TCTGGCATACCAGAG | ATAAAGACCATTTTGAGCGGCTTTATCATCAGGGGCTACTTGGGG c.600
S G I P E | I K T I L S G F I I R G Y L G p.200
. . . . . . g.54518
AAGTGGACCCTGCTAATCAAGACAGTCACGCTGGTGCTGGTAGTGTCCTCCGGTCTGAGC c.660
K W T L L I K T V T L V L V V S S G L S p.220
. . . . . . g.54578
CTTGGGAAGGAAGGGCCGCTAGTGCACGTGGCTTGTTGCTGTGGCAACTTCTTCAGCAGC c.720
L G K E G P L V H V A C C C G N F F S S p.240
. . . . | 08 . . g.54769
CTTTTCTCCAAGTACAGCAAGAATGAGGGCAAGAGGCGGGAG | GTGCTTTCAGCTGCAGCG c.780
L F S K Y S K N E G K R R E | V L S A A A p.260
. . . . . . g.54829
GCTGCTGGAGTCTCTGTTGCCTTTGGTGCACCAATTGGAGGCGTGCTTTTCAGTCTAGAA c.840
A A G V S V A F G A P I G G V L F S L E p.280
| 09 . . . . . . g.56157
GAG | GTCAGTTACTACTTTCCCCTGAAGACCTTGTGGAGGTCATTTTTCGCAGCCCTGGTG c.900
E | V S Y Y F P L K T L W R S F F A A L V p.300
. . . . . . g.56217
GCGGCCTTTACGCTGAGATCCATCAATCCCTTTGGGAATAGCCGTCTCGTTCTCTTTTAT c.960
A A F T L R S I N P F G N S R L V L F Y p.320
. . . . . . g.56277
GTGGAATACCACACGCCCTGGTACATGGCTGAACTCTTCCCCTTCATCCTGCTTGGGGTC c.1020
V E Y H T P W Y M A E L F P F I L L G V p.340
. . . . . . g.56337
TTCGGGGGCTTGTGGGGAACCCTCTTCATCCGCTGCAACATCGCCTGGTGCAGGAGGCGC c.1080
F G G L W G T L F I R C N I A W C R R R p.360
. . . . . . g.56397
AAGACCACCAGGCTGGGGAAGTACCCGGTGCTGGAGGTCATTGTGGTGACTGCCATCACT c.1140
K T T R L G K Y P V L E V I V V T A I T p.380
. . . . . . g.56457
GCCATCATTGCCTACCCCAATCCCTACACACGCCAGAGCACCAGCGAGCTCATTTCTGAG c.1200
A I I A Y P N P Y T R Q S T S E L I S E p.400
. . . . . . g.56517
CTGTTCAATGACTGTGGAGCCCTTGAGTCTTCCCAGCTCTGTGACTACATCAATGACCCC c.1260
L F N D C G A L E S S Q L C D Y I N D P p.420
. . . . . . g.56577
AACATGACTCGGCCTGTGGATGACATTCCAGACCGGCCGGCTGGTGTCGGTGTTTACACG c.1320
N M T R P V D D I P D R P A G V G V Y T p.440
. . . . . . g.56637
GCCATGTGGCAGCTGGCCCTGGCACTGATCTTCAAAATCGTCGTTACCATATTTACCTTT c.1380
A M W Q L A L A L I F K I V V T I F T F p.460
| 10 . . . . . g.60573
GGCATGAAG | ATCCCGTCGGGCCTCTTCATCCCCAGCATGGCTGTGGGCGCGATAGCGGGC c.1440
G M K | I P S G L F I P S M A V G A I A G p.480
. . . . . . g.60633
AGGATGGTGGGAATTGGCGTGGAGCAGCTGGCCTACCATCACCATGACTGGATCATCTTC c.1500
R M V G I G V E Q L A Y H H H D W I I F p.500
. . . . . . g.60693
AGGAACTGGTGCAGACCCGGTGCAGACTGTGTCACGCCAGGGCTGTACGCAATGGTGGGA c.1560
R N W C R P G A D C V T P G L Y A M V G p.520
. | 11 . . . . . g.61780
GCTGCGGCCTGCCTCG | GTGGAGTTACCAGGATGACGGTGTCATTGGTGGTCATCATGTTT c.1620
A A A C L G | G V T R M T V S L V V I M F p.540
. . . . . . g.61840
GAATTAACCGGGGGTCTGGAGTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAG c.1680
E L T G G L E Y I V P L M A A A V T S K p.560
. . . . . . g.61900
TGGGTAGCTGATGCATTTGGGAAAGAAGGCATCTACGAGGCCCACATCCACTTAAATGGG c.1740
W V A D A F G K E G I Y E A H I H L N G p.580
. . . . . . g.61960
TACCCTTTCCTTGACGTGAAGGACGAGTTTACTCACCGCACACTGGCCACCGACGTCATG c.1800
Y P F L D V K D E F T H R T L A T D V M p.600
. . . . . . g.62020
CGGCCCCGGCGGGGAGAGCCGCCACTGTCGGTGCTCACCCAGGACAGCATGACTGTCGAG c.1860
R P R R G E P P L S V L T Q D S M T V E p.620
. . . . . . g.62080
GACGTGGAGACGCTCATCAAGGAGACCGACTACAACGGCTTCCCCGTGGTGGTCTCCAGA c.1920
D V E T L I K E T D Y N G F P V V V S R p.640
. . . . . | 12 . g.68721
GACTCCGAGCGCCTCATTGGATTTGCCCAGAGGAGGGAACTGATTCTCGCAATAA | AGAAC c.1980
D S E R L I G F A Q R R E L I L A I K | N p.660
. . . . . . g.68781
GCCAGACAGAGGCAGGAGGGCATTGTGAGCAATTCCATCATGTACTTCACGGAGGAACCC c.2040
A R Q R Q E G I V S N S I M Y F T E E P p.680
. . . . . . g.68841
CCCGAGCTGCCGGCCAACAGCCCACATCCCCTGAAGCTGCGGCGCATCCTGAACCTCAGC c.2100
P E L P A N S P H P L K L R R I L N L S p.700
. . . . . . g.68901
CCGTTTACAGTGACAGACCACACTCCGATGGAAACGGTGGTGGATATCTTCCGGAAACTG c.2160
P F T V T D H T P M E T V V D I F R K L p.720
. . . | 13 . . . g.81577
GGGCTTCGGCAGTGCCTGGTGACGCGGAGCGG | GAGACTTCTTGGCATCATCACAAAAAAG c.2220
G L R Q C L V T R S G | R L L G I I T K K p.740
. . . . . . g.81637
GATGTTCTGAGACATATGGCCCAGATGGCAAACCAGGACCCCGAATCCATCATGTTTAAT c.2280
D V L R H M A Q M A N Q D P E S I M F N p.760
g.81640
TAG c.2283
X p.760
. . . . . . g.81700
caacaaggtggcaattattttcagaaaaacactgactgtgtcatttaaaaagaaataaat c.*60
. . . . . . g.81760
gatatgttattatcccaatgaaagatcatgcattggggacagcagaaacaaaagcttttt c.*120
. . . . . . g.81820
tggaaaggcggggaagaaggatgaaacctttaaaaacaaaaacaaaaacatcaatgagta c.*180
. . . . . . g.81880
ggcattttatagctttaaccccgtatgagtttcaagctgtgtttcctaatgagtttgcta c.*240
. . . . . . g.81940
ctgctgtgggggcatgtgggtgggtaaatgatgtaaatgatgtgatctgtacaagtatgt c.*300
. . . . . . g.82000
ggagcatgaatgctgactcaagaaacttttactccttctgctcaaggctgatgtttgtaa c.*360
. . . . . . g.82060
cttatgaacacacgtgaagtgttgagtccaaaagacaaaggggcatcggcatgtcagcgt c.*420
. . . . . . g.82120
ccttatttattggttcttgaagttttgctgctatgttactgaatcatactaaagacattt c.*480
. . . . . . g.82180
gcgcttactttgttgaaaaagaaaaagaaattaaatttgaacacagtgaaagctgcaagt c.*540
. . . . . . g.82240
atgccagtgggtccgctcacgaccgtcctgtttcttgctcctgttctcagcctgttatct c.*600
. . . . . . g.82300
ggcttatccatcagtttctgaaccaacatcaggggcacctgccatgatgagtgtgaagaa c.*660
. . . . . . g.82360
atcatttctctatgcaagactggcatcctgggactgcacgatgaactattggagcataca c.*720
. . . . . . g.82420
gtactgcggtgtgtctcctcccatacaaagggacacatccttattttgagggtatactca c.*780
. . . . . . g.82480
cccgatcattgatttgcatccccatggcatttgcttcatttatttattgcttttgcccat c.*840
. . . . . . g.82540
gcattcaatattgatcagctcagcacttccatgggccatagccggtatgcccccagcctg c.*900
. . . . . . g.82600
ccataagcgtgctttcattttcaagtagcatatgcaagagtccaaacaggctacccaatg c.*960
. . . . . . g.82660
ttactacttatttttcctctcaggtcttatcagatacggctgtggagaggatgaggcata c.*1020
. . . . . . g.82720
tgcgttgtcagttggaatccctccaaatggattgcaagagaaatactaaattgattctaa c.*1080
. . . . . . g.82780
atctgttccattatcttctctgtaggatgcaaaacatccagttgtaatgtataagcatgc c.*1140
. . . . . . g.82840
acttcatactagcaatcacagcacaggaggacagcattaaattttatatagccaatttgg c.*1200
. . . . . . g.82900
gcactgggcatctttgtatttgaacttaacgacacatttactcttttagtcaggatttcg c.*1260
. . . . . . g.82960
gtcttttctgcgggaaggaattaagctatgtattaggtccaccatacgatctgtgtaagt c.*1320
. . . . . . g.83020
aagattatcccacttgccctttctctttagtctttgtcccttccttttcactaagtgccc c.*1380
. . . . . . g.83080
ctcatccttttcaatctcattgtcactggatagtgctgtatcacttaggtgtgcattcgg c.*1440
. . . . . . g.83140
ctgcaaataacagaaaacccagcaaacactgaagggctggataagaaccctgagaggggg c.*1500
. . . . . . g.83200
tactccaggactgtctccataacatcattgggatccccatcccgttgctatttctttttc c.*1560
. . . . . . g.83260
accgtttttaccttttgtcctctggcttattgcctcagagttgcaagatggttcctgaac c.*1620
. . . . . . g.83320
tgtcaggtatcatgtctgctttctaagtgggaagaggaagggagaggcaagcaactaggt c.*1680
. . . . . . g.83380
acaatgtctatcaggaaagcaaagcttccccagagacgctcagcttgtatccattgactg c.*1740
. . . . . . g.83440
gaagtctgtcacgtggctccccctagccgcacactagtgtgggaaggaaaatattgagct c.*1800
. . . . . . g.83500
aggcacattactctctgaacgaaattcatattatcttattaaggaagagtgttggtcttc c.*1860
. . . . . . g.83560
aggaggggaagtttgctgtattggatgccatcatcgtgtccttgtcattgcccttccggt c.*1920
. . . . . . g.83620
tttcattcttgctaaacccctgtgaatgttcttctaaccttcctgttccccacccctttt c.*1980
. . . . . . g.83680
ctcagatttgacctagaattcccagcccaaatccataatttcttagctctaatacgaatt c.*2040
. . . . . . g.83740
ttcatgttggacaaaaacctagctacaaatgggtttctatggaacttctaattaatgtgc c.*2100
. . . . . . g.83800
aaaatacatattttctccaggttaagaaattttaagtcagatcatgctgacacaataaga c.*2160
. . . . . . g.83860
aaatttgtttgtgtaattcattgacctcttccttccaaaataacatcaagtagccacctc c.*2220
. . . . . . g.83920
agtgtgacaatatccagtcaatagtagagaatttaatccttggtcctataaaagaataaa c.*2280
. . . . . . g.83980
attcattgtcgtatttatagcacgtaagccttgagtaacaggtcttaatgttagtgttgg c.*2340
. . . . . . g.84040
tgttgtggtttctgcggaacgtttacaagtgaagttggattctcctgggctttaaatcca c.*2400
. . . . . . g.84100
aaaagtcttaatgaccgcttcatgtagttcccctcttattcccctgtggtctcctcagag c.*2460
. . . . . . g.84160
ccagcgtgtgctgggaaagagtattagtcatagcctggctttatagaatccaggaggtcc c.*2520
. . . . . . g.84220
ttttagctgaaacaagtggcttcaaaagggaacatgaaacagtgaaaagatagccaaagg c.*2580
. . . . . . g.84280
tcagtgaaaccacagcatttctttctaatctggctgaggccatgggggggaatgagggga c.*2640
. . . . . . g.84340
aattatgcttccgggccaaggtcaccgagggggaccttgggatttgtgtcctccccagtg c.*2700
. . . . . . g.84400
cttagagtagagatacctgcaaattcatggcaaacagttggaagagttacttgactgaaa c.*2760
. . . . . . g.84460
caacccaatcttactttctttcgtaagttgaacctctgatttattgtggggttcaggctc c.*2820
. . . . . . g.84520
tcctcaatagaaggccagagttggacaggtggactaaggtcaaggatgaggagtctgcag c.*2880
. . . . . . g.84580
tggggactaccacagcaaactgccttccttccgtggagtcctaactcagccatgtggtcc c.*2940
. . . . . . g.84640
actcacccaggggcccgggggctcagacaaaccccatggggaacatgctgccatgctctg c.*3000
. . . . . . g.84700
tctttcttgtaaacgtagttgggtagggatcccaagggtatttgctctctccaaatgcag c.*3060
. . . . . . g.84760
aacttccatccactttatctggtgatctgatgaacagcatggggacgtggaggtgaaata c.*3120
. . . . . . g.84820
agcatctttcagaataaggtttttttttttttcctcttccagaaccaaaggctttagaca c.*3180
. . . . . . g.84880
tttgtagaactttctggattccttctgaatcgggttttaacataaaaaaccatcaacaca c.*3240
. . . . . . g.84940
tcatgggaaaggagctctttcatgatatacatcacatgtttcttgctctcactgaggaaa c.*3300
. . . . . . g.85000
tgtgttgtacaaaagcaccaaataagggcaccctggaagtgacatgtgtgtttcttctaa c.*3360
. . . . . . g.85060
gtcgtttttagtgcatcccctgcgattgcatgatgctcatgtggcttttagggaaaggca c.*3420
. . . . . . g.85120
gaatgtgctagaagtcgaagtcattcaatattcagtgcttactgttactttgaaccaggt c.*3480
. . . . . . g.85180
aatctcagttctttattcagtccttcccaaagaccttacaaaggagatgtgtaaactgat c.*3540
. . . . . . g.85240
agattttgagcctaataagtcacagaaatggaaaattttagagcagtttgtttcacttag c.*3600
. . . . . . g.85300
gtgagaactgattactttaaattaccaacatgtgcaaattctacttagtattcattatta c.*3660
. . . . . . g.85360
gatgctaagctggaaaagatgagaaacccaaggagaactattgaattaccacataattgt c.*3720
. . . . . . g.85420
aatattatgctttaattttgtatgggcagtgttctatcagactaagcttctagcctttga c.*3780
. . . . . . g.85480
aatgatttacatgaggagagagcctgtatatctgacttgggaaacattaagcagacccta c.*3840
. . . . . . g.85540
ttttcactggcgcggtaataactatttatttgctatcctagaggtgctgggaatgagcct c.*3900
. . . . . . g.85600
acgtgcgactttgatgagatatattcacatttggtgttggaacgaccacatagcaacgtg c.*3960
. . . . . . g.85660
ttggtttttttttattgtaacactctgtgtaaacgttgacaccttattaaatattaaatg c.*4020
. . . . . g.85716
tctgaactctatttttaaaaataaaacaagcacagagtctgcaacaaacatgtaaa c.*4076
(downstream sequence)
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