(used for variant description)
(last modified October 31, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001829.3 in the CLCN3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering CLCN3 transcript NM_001829.3.
(upstream sequence)
. g.5019
gtgacgtcacgcgtcgacg c.-541
. . . . . . g.5079
ctggggcgtacctttcgggctcctgactcctgccgcttctcttccccttccgtgggtcag c.-481
. . . . . . g.5139
ggccggtccggtccggaacctgcagcccctttcccagtgttctagttcgcccgtgacccg c.-421
. . . . . . g.5199
gaataatgagcaaggagggtgtggtgggttgaaagccatcctactttactcccgagttag c.-361
. . . . . . g.5259
agcatggattcagttttagtcttaagggggaagtgagattggagatttttatttttaatt c.-301
. . . . . . g.5319
ttgggcagaagcaggttgactctagggatctccagagcgagaggatttaacttcatgttg c.-241
. . . . . . g.5379
ctcccgtgtttgaaggaggacaataaaagtcccaccgggcaaaattttcgtaacctctgc c.-181
. . . . . . g.5439
ggtagaaaacgtcaggtatcttttaaatcgcgatagttttcgctgtgtcaggctttcttc c.-121
. . . . . . g.5499
ggtggagctccgagggtagctaggttctaggtttgaaacagatgcagaatccaaaggcag c.-61
. . . . . | 02 . g.20408
cgcaaaaaacagccaccgattttgctatgtctctgagctgcgag | ataatcagacagctaa c.-1
. . . . . . g.20468
ATGGAGTCTGAGCAGCTGTTCCATAGAGGCTACTATAGAAACAGCTACAACAGTATAACA c.60
M E S E Q L F H R G Y Y R N S Y N S I T p.20
. . . . . . g.20528
AGTGCAAGTAGTGATGAGGAACTTTTAGATGGAGCAGGTGTTATTATGGACTTTCAAACA c.120
S A S S D E E L L D G A G V I M D F Q T p.40
. . . . | 03 . . g.64549
TCTGAAGATGACAATTTATTAGATGGTGACACTGCAGTTG | GAACTCATTATACAATGACA c.180
S E D D N L L D G D T A V G | T H Y T M T p.60
. . . . . . g.64609
AATGGAGGCAGCATTAACAGTTCTACACATTTACTGGATCTTTTGGATGAACCAATTCCA c.240
N G G S I N S S T H L L D L L D E P I P p.80
. . . . . . g.64669
GGTGTTGGTACATATGATGATTTCCATACTATTGATTGGGTGCGAGAAAAATGTAAAGAC c.300
G V G T Y D D F H T I D W V R E K C K D p.100
. | 04 . . . . g.72179
AGAGAAAGGCATAGACGG | ATCAACAGCAAAAAGAAAGAATCAGCATGGGAAATGACAAAA c.360
R E R H R R | I N S K K K E S A W E M T K p.120
. . . . . | 05 g.73524
AGTTTGTATGATGCGTGGTCAGGATGGCTAGTAGTAACACTAACAGGATTGGCATCAG | GG c.420
S L Y D A W S G W L V V T L T G L A S G | p.140
. . . . . . g.73584
GCACTGGCCGGATTAATAGACATTGCTGCCGATTGGATGACTGACCTAAAGGAGGGCATT c.480
A L A G L I D I A A D W M T D L K E G I p.160
. . . . . . g.73644
TGCCTTAGTGCGTTGTGGTACAACCACGAACAGTGCTGTTGGGGATCTAATGAAACAACA c.540
C L S A L W Y N H E Q C C W G S N E T T p.180
. . . . . . g.73704
TTTGAAGAGAGGGATAAATGTCCACAGTGGAAAACATGGGCAGAATTAATCATAGGTCAA c.600
F E E R D K C P Q W K T W A E L I I G Q p.200
| 06 . . . . . . g.75063
GCAGAG | GGTCCTGGTTCTTATATCATGAACTACATAATGTACATCTTCTGGGCCTTGAGT c.660
A E | G P G S Y I M N Y I M Y I F W A L S p.220
. . . . . . g.75123
TTTGCCTTTCTTGCAGTTTCCCTGGTAAAGGTATTTGCTCCATATGCCTGTGGCTCTGGA c.720
F A F L A V S L V K V F A P Y A C G S G p.240
| 07 . . . . . g.76644
ATTCCAGAG | ATTAAAACTATTTTAAGTGGATTCATCATCAGAGGTTACTTGGGAAAATGG c.780
I P E | I K T I L S G F I I R G Y L G K W p.260
. . . . . . g.76704
ACTTTAATGATTAAAACCATCACATTAGTCCTGGCTGTGGCATCAGGTTTGAGTTTAGGA c.840
T L M I K T I T L V L A V A S G L S L G p.280
. . . . . . g.76764
AAAGAAGGTCCCCTGGTACATGTTGCCTGTTGCTGCGGAAATATCTTTTCCTACCTCTTT c.900
K E G P L V H V A C C C G N I F S Y L F p.300
. . . | 08 . . . g.80115
CCAAAGTATAGCACAAACGAAGCTAAAAAAAGGGAG | GTGCTATCAGCTGCCTCAGCTGCA c.960
P K Y S T N E A K K R E | V L S A A S A A p.320
. . . . . | 09. g.81671
GGGGTTTCTGTAGCTTTTGGTGCACCAATTGGAGGAGTTCTTTTTAGCCTGGAAGAG | GTT c.1020
G V S V A F G A P I G G V L F S L E E | V p.340
. . . . . . g.81731
AGCTATTATTTTCCTCTCAAAACTTTATGGAGATCATTTTTTGCTGCTTTAGTGGCTGCA c.1080
S Y Y F P L K T L W R S F F A A L V A A p.360
. . . . . . g.81791
TTTGTTTTGAGGTCCATCAATCCATTTGGTAACAGCCGTCTGGTCCTTTTTTATGTGGAG c.1140
F V L R S I N P F G N S R L V L F Y V E p.380
. . . . . . g.81851
TATCATACACCATGGTACCTTTTTGAACTGTTTCCTTTTATTCTTCTAGGGGTATTTGGA c.1200
Y H T P W Y L F E L F P F I L L G V F G p.400
. . . . . . g.81911
GGGCTTTGGGGAGCCTTTTTCATTAGGGCAAATATTGCCTGGTGTCGTCGACGCAAGTCC c.1260
G L W G A F F I R A N I A W C R R R K S p.420
. . . . . . g.81971
ACGAAATTTGGAAAGTATCCCGTTCTGGAAGTCATTATTGTTGCAGCCATTACTGCTGTG c.1320
T K F G K Y P V L E V I I V A A I T A V p.440
. . . . . . g.82031
ATAGCCTTCCCTAATCCATACACTAGGCTAAACACCAGTGAACTGATCAAAGAGCTTTTT c.1380
I A F P N P Y T R L N T S E L I K E L F p.460
. . . . . . g.82091
ACAGACTGTGGTCCCCTGGAATCCTCTTCTCTTTGTGACTACAGAAATGACATGAATGCC c.1440
T D C G P L E S S S L C D Y R N D M N A p.480
. . . . . . g.82151
AGTAAAATTGTCGATGACATTCCTGATCGTCCAGCAGGCATTGGAGTATATTCAGCTATA c.1500
S K I V D D I P D R P A G I G V Y S A I p.500
. . . . . . g.82211
TGGCAGTTATGCCTGGCACTCATATTTAAAATCATAATGACAGTATTCACTTTTGGCATC c.1560
W Q L C L A L I F K I I M T V F T F G I p.520
| 10 . . . . . . g.88534
AAG | GTTCCATCAGGCTTGTTCATCCCCAGCATGGCCATTGGAGCGATCGCAGGAAGGATT c.1620
K | V P S G L F I P S M A I G A I A G R I p.540
. . . . . . g.88594
GTGGGGATTGCGGTGGAGCAGCTTGCCTACTATCACCACGACTGGTTTATCTTTAAGGAG c.1680
V G I A V E Q L A Y Y H H D W F I F K E p.560
. . . . . . g.88654
TGGTGTGAGGTCGGGGCTGATTGCATTACACCTGGCCTTTATGCCATGGTTGGTGCTGCT c.1740
W C E V G A D C I T P G L Y A M V G A A p.580
. | 11 . . . . . g.91397
GCATGCTTAG | GTGGTGTGACAAGAATGACTGTCTCCCTGGTGGTTATTGTTTTTGAGCTT c.1800
A C L G | G V T R M T V S L V V I V F E L p.600
. . . . . . g.91457
ACTGGAGGCTTGGAATATATTGTTCCCCTTATGGCTGCAGTCATGACCAGTAAATGGGTT c.1860
T G G L E Y I V P L M A A V M T S K W V p.620
. . . . . . g.91517
GGAGATGCCTTTGGCAGGGAAGGCATTTATGAAGCACACATCCGATTAAATGGATACCCT c.1920
G D A F G R E G I Y E A H I R L N G Y P p.640
. . . . . . g.91577
TTCTTGGATGCAAAAGAAGAATTCACTCATACCACCCTGGCTGCTGACGTTATGAGACCT c.1980
F L D A K E E F T H T T L A A D V M R P p.660
. . . . . . g.91637
CGAAGGAATGATCCTCCCTTAGCTGTCCTGACACAGGACAATATGACAGTGGATGATATA c.2040
R R N D P P L A V L T Q D N M T V D D I p.680
. . . . . . g.91697
GAAAACATGATTAATGAAACCAGCTACAATGGATTTCCTGTCATAATGTCAAAAGAATCT c.2100
E N M I N E T S Y N G F P V I M S K E S p.700
. . . . | 12 . g.97569
CAGAGATTAGTGGGATTTGCCCTCAGAAGAGACCTGACAATTGCAATAG | AAAGTGCCAGG c.2160
Q R L V G F A L R R D L T I A I E | S A R p.720
. . . . . . g.97629
AAAAAACAAGAAGGTATCGTTGGCAGTTCTCGGGTGTGTTTTGCACAGCACACCCCATCT c.2220
K K Q E G I V G S S R V C F A Q H T P S p.740
. . . . . . g.97689
CTTCCAGCAGAAAGTCCTCGGCCATTGAAGCTTCGAAGCATTCTTGACATGAGCCCTTTT c.2280
L P A E S P R P L K L R S I L D M S P F p.760
. . . . . . g.97749
ACAGTGACAGACCACACCCCAATGGAGATCGTGGTGGATATTTTCCGAAAGCTGGGACTG c.2340
T V T D H T P M E I V V D I F R K L G L p.780
. . | 13 . . . . g.104420
AGGCAGTGCCTTGTAACTCACAATGG | GCGCCTCCTTGGCATTATAACAAAAAAAGATATC c.2400
R Q C L V T H N G | R L L G I I T K K D I p.800
. . . . . g.104477
CTCCGGCATATGGCCCAGACGGCAAACCAAGACCCCGCTTCAATAATGTTCAACTGA c.2457
L R H M A Q T A N Q D P A S I M F N X p.818
. . . . . . g.104537
atctcacagatgaggagagagaagaaacggaagaggaagtttatttgttgaatagcacaa c.*60
. . . . . . g.104597
ctctttaacctgagggagtcatctacttttttttcctcctttacaaaaaaagaaaggaaa c.*120
. . . . . . g.104657
tataaaagccgggtttttgcaacatggtttgcaaataatgctggtggaatggaggagttg c.*180
. . . . . . g.104717
tttggggagggaaaggagagagaaggaaaggagtgaggtatttcccgtctaacagaaagc c.*240
. . . . . . g.104777
agcgtatcaactcctattgttctgcactggatgcattcagctgaggatgtgcctgatagt c.*300
. . . . . . g.104837
gcaggcttgcgcctcaacagagatgacagcagagtcctcgagcacctggcctgttgctcc c.*360
. . . . . . g.104897
aacattgcaaagacacattatcagtccctatttctagagggattactttgaattgagcca c.*420
. . . . . . g.104957
tctataaaactgcaaggtcttgcccttttttttaatcaaaactgttctgtttaattcatg c.*480
. . . . . . g.105017
aattgtatagttaagcattacctttctacattccagaagagcctttatttctctctctct c.*540
. . . . . . g.105077
ctctctctctctctctctctctactgagctgtaacaaagcctctttaaatcggtgtatcc c.*600
. . . . . . g.105137
ttttgaagcagtcctttctcatattgagatgtactgtgattttactgaggtttcatcaca c.*660
. . . . . . g.105197
agaagggagtgtttcttgtgccattaaccatgtagtttgtaccatcactaaatgcttgga c.*720
. . . . . . g.105257
acagtacacatgcaccacaacaaaggctcatcaaacaggtaaagtctcgaaggaagcgag c.*780
. . . . . . g.105317
aacgaaatctctcattgtgtgccgtgtggctcaaaaccgaaaacaatgaagcttggtttt c.*840
. . . . . . g.105377
aaaggataaagttttcttttttgttttcctctcagactttatggataatgtgaccgggtc c.*900
. . . . . . g.105437
ttatgcaaattttctatttctaaaactactactatgatatacaagtgctgttgagcataa c.*960
. . . . . . g.105497
ttaaataaaatgctgctgctttgacagtaaagagaaggaagtattctgattagctgtatc c.*1020
. . . . . . g.105557
tggtattaattgcatgttaaaacactggaatttttaaaattgaaattagatcagtcattc c.*1080
. . . . . . g.105617
ttttcttttctcaagatatctcatggctgacactgaagaagaaatgtaattcataacttg c.*1140
. . . . . . g.105677
cactaaatgtatattttttttcttaaaaatttaccattcttatttatatttttatggatt c.*1200
. . . . . . g.105737
aaaatttataaaatacagatcagttaatattgcacttaagtaattttacctttttaatgt c.*1260
. . . . . . g.105797
gatttttatagaataattcagacttacaaatacagagatatgaacaaagtttacagtggg c.*1320
. . . . . . g.105857
aacaaaggtttaaaaaaaggttgtggttctctctctgtgatccagtgtgcacataaacct c.*1380
. . . . . . g.105917
ttctctgatctttcactgccatcctctggattatgtcttctgacctgtccattttgaccc c.*1440
. . . . . . g.105977
attaactggaaagttgaaaaactacattaactggaaagttgaaaaactacattactttgg c.*1500
. . . . . . g.106037
agaataaaaccgaaagttcgtgtataccttcttaaaaaaaaaatcaaaccaaaaatgtga c.*1560
. . . . . . g.106097
aaacaatagaattgcaaagatagcagttaaaattttaatctgaaaataacctttgaatct c.*1620
. . . . . . g.106157
cgggctaggttacgtccatatttgaagtggtcagtgatggtttgaacattttttgcagga c.*1680
. . . . . . g.106217
tgagtgaaaatgcactggattatatttgggatttttgtttttggaattgtctgttttaat c.*1740
. . . . . . g.106277
cacagccttaattcacaattggcaaaggcagtttactcaaaggactgggctaaatattct c.*1800
. . . . . . g.106337
gtaattatgcatttttgataggaaaatgaaatttttgcaaacagacattttctttttttt c.*1860
. . . . . . g.106397
tggctggagtgcagtggggcatggtcttggctcactgcagcgttgaccacctgggctcaa c.*1920
. . . . . . g.106457
gtgatactcccgcctcagccacccaagtagctggcactacgggcacacgccaccatgccc c.*1980
. . . . . . g.106517
agctaatttttttgtatttttagtagagatggggttttgccatgctgcccaggctggtct c.*2040
. . . . . . g.106577
caactcctcagctcaagcaatctgcctgcgtgagcctcccaaagtggtggaattacaggc c.*2100
. . . . . . g.106637
gtgggccactgcgcctggcccagacagacattttctgaaacacaactggcaatgagctgt c.*2160
. . . . . . g.106697
ttttacattttgaaagtgattcttcacttcctagttcttaattatagtatacctattaag c.*2220
. . . . . . g.106757
atctgtaagatcctgaagacataagatcatgaagccatataagaatgaggattgaaagtt c.*2280
. . . . . . g.106817
gagcaaaattttcgggattttgggaaacattcttagctgtgctatctgcctaaaattatt c.*2340
. . . . . . g.106877
ccttattacttctctcctttgacagacttcaagttttcttcatagccctttcaaagtttt c.*2400
. . . . . . g.106937
ttgagccatccagagtaaaatcatttctaaatgatagttctgtatatctccaactcgtct c.*2460
. . . . . . g.106997
taagtgtatttgcctgtgtgcaacgtattgctagactatgaactcctcagcatggctgct c.*2520
. . . . . . g.107057
ggataacttaattgtcctgagttaatagccttcaaaggacaaatcggtttctttgcagat c.*2580
. . . . . . g.107117
agcttcgtaaaacttcacatggagtttattttatcatatttcccttttttatttctgctc c.*2640
. . . . . . g.107177
ctcctttaattgcccatcttgcttcagagactgacatttcagggtggatattaattaaag c.*2700
. . . . . . g.107237
cattaattttgttttttggtatatttctatccctagtatttctatcttactgctaaaata c.*2760
. . . . . . g.107297
caggaaaagtgccgtatttttaatgcatttagtggttttctttggtgttatctgttccat c.*2820
. . . . . . g.107357
ttttctttttcatacattgaagtgtgtctccttttcaaccaaaataatgaaatagtggag c.*2880
. . . . . . g.107417
accatgaaattgttgtgcctggctaattggcaaattaatttaccaatataataagtgtag c.*2940
. . . . . . g.107477
cgccttgtttgaataccctttttgagaaggtatgatgagaatgggcaagggtgtcagcat c.*3000
. . . . . . g.107537
ctcttcttcttaataattaattgttttcagttttggttcacgaagaatgcttagttaatc c.*3060
. . . . . . g.107597
tgtaatgttgcctagagctgtatttatctgtttttatttatactagtgtagtaaagctgc c.*3120
. . . . . . g.107657
atatcattacagtaaaaacgactactgtgatgagttaatcagaaaatctattaaaatcta c.*3180
. g.107667
tatgacaatg c.*3190
(downstream sequence)
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