(used for variant description)
(last modified July 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001038.5 in the SCNN1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011945.1, covering SCNN1A transcript NM_001038.5.
(upstream sequence)
. . . . g.6667
cttgcctgtctgcgtctaaagcccctgcccagagtccgccttctcaggt c.-241
. . . . . . g.6727
ccagtactcccagttcacctgccctcgggagccctccttccttcggaaaactcccggctc c.-181
. . . . . . g.6787
tgactcctcctcagcccctccccccgccctgctcacctttaattgagatgctaatgagat c.-121
. . . . . . g.6847
tcctgtcgcttccatccctggccggccagcgggcgggctccccagccaggccgctgcacc c.-61
. | 02 . . . . . g.7574
tgtcag | gggaacaagctggaggagcaggaccctagacctctgcagcccataccaggtctc c.-1
. . . . . . g.7634
ATGGAGGGGAACAAGCTGGAGGAGCAGGACTCTAGCCCTCCACAGTCCACTCCAGGGCTC c.60
M E G N K L E E Q D S S P P Q S T P G L p.20
. . . . . . g.7694
ATGAAGGGGAACAAGCGTGAGGAGCAGGGGCTGGGCCCCGAACCTGCGGCGCCCCAGCAG c.120
M K G N K R E E Q G L G P E P A A P Q Q p.40
. . . . . . g.7754
CCCACGGCGGAGGAGGAGGCCCTGATCGAGTTCCACCGCTCCTACCGAGAGCTCTTCGAG c.180
P T A E E E A L I E F H R S Y R E L F E p.60
. . . . . . g.7814
TTCTTCTGCAACAACACCACCATCCACGGCGCCATCCGCCTGGTGTGCTCCCAGCACAAC c.240
F F C N N T T I H G A I R L V C S Q H N p.80
. . . . . . g.7874
CGCATGAAGACGGCCTTCTGGGCAGTGCTGTGGCTCTGCACCTTTGGCATGATGTACTGG c.300
R M K T A F W A V L W L C T F G M M Y W p.100
. . . . . . g.7934
CAATTCGGCCTGCTTTTCGGAGAGTACTTCAGCTACCCCGTCAGCCTCAACATCAACCTC c.360
Q F G L L F G E Y F S Y P V S L N I N L p.120
. . . . . | 03 . g.18651
AACTCGGACAAGCTCGTCTTCCCCGCAGTGACCATCTGCACCCTCAATCCCTACAG | GTAC c.420
N S D K L V F P A V T I C T L N P Y R | Y p.140
. . . . . . g.18711
CCGGAAATTAAAGAGGAGCTGGAGGAGCTGGACCGCATCACAGAGCAGACGCTCTTTGAC c.480
P E I K E E L E E L D R I T E Q T L F D p.160
. . . . . . g.18771
CTGTACAAATACAGCTCCTTCACCACTCTCGTGGCCGGCTCCCGCAGCCGTCGCGACCTG c.540
L Y K Y S S F T T L V A G S R S R R D L p.180
. . . . . . g.18831
CGGGGGACTCTGCCGCACCCCTTGCAGCGCCTGAGGGTCCCGCCCCCGCCTCACGGGGCC c.600
R G T L P H P L Q R L R V P P P P H G A p.200
. . . . . . g.18891
CGTCGAGCCCGTAGCGTGGCCTCCAGCTTGCGGGACAACAACCCCCAGGTGGACTGGAAG c.660
R R A R S V A S S L R D N N P Q V D W K p.220
. . | 04 . . . . g.20152
GACTGGAAGATCGGCTTCCAGCTG | TGCAACCAGAACAAATCGGACTGCTTCTACCAGACA c.720
D W K I G F Q L | C N Q N K S D C F Y Q T p.240
. . . . . . g.20212
TACTCATCAGGGGTGGATGCGGTGAGGGAGTGGTACCGCTTCCACTACATCAACATCCTG c.780
Y S S G V D A V R E W Y R F H Y I N I L p.260
. . . . . . g.20272
TCGAGGCTGCCAGAGACTCTGCCATCCCTGGAGGAGGACACGCTGGGCAACTTCATCTTC c.840
S R L P E T L P S L E E D T L G N F I F p.280
. . . | 05 . . . g.26502
GCCTGCCGCTTCAACCAGGTCTCCTGCAACCAGGC | GAATTACTCTCACTTCCACCACCCG c.900
A C R F N Q V S C N Q A | N Y S H F H H P p.300
. . . . . . g.26562
ATGTATGGAAACTGCTATACTTTCAATGACAAGAACAACTCCAACCTCTGGATGTCTTCC c.960
M Y G N C Y T F N D K N N S N L W M S S p.320
. | 06 . . . . g.26963
ATGCCTGGAATCAACAACG | GTCTGTCCCTGATGCTGCGCGCAGAGCAGAATGACTTCATT c.1020
M P G I N N G | L S L M L R A E Q N D F I p.340
. . . . . . g.27023
CCCCTGCTGTCCACAGTGACTGGGGCCCGGGTAATGGTGCACGGGCAGGATGAACCTGCC c.1080
P L L S T V T G A R V M V H G Q D E P A p.360
. . . . . . g.27083
TTTATGGATGATGGTGGCTTTAACTTGCGGCCTGGCGTGGAGACCTCCATCAGCATGAGG c.1140
F M D D G G F N L R P G V E T S I S M R p.380
| 07 . . . . . . g.27566
AAG | GAAACCCTGGACAGACTTGGGGGCGATTATGGCGACTGCACCAAGAATGGCAGTGAT c.1200
K | E T L D R L G G D Y G D C T K N G S D p.400
. . . . | 08 . . g.27820
GTTCCTGTTGAGAACCTTTACCCTTCAAAGTACACACAGCAG | GTGTGTATTCACTCCTGC c.1260
V P V E N L Y P S K Y T Q Q | V C I H S C p.420
. . . . . . g.27880
TTCCAGGAGAGCATGATCAAGGAGTGTGGCTGTGCCTACATCTTCTATCCGCGGCCCCAG c.1320
F Q E S M I K E C G C A Y I F Y P R P Q p.440
. . . . | 09 . . g.32972
AACGTGGAGTACTGTGACTACAGAAAGCACAGTTCCTGGG | GGTACTGCTACTATAAGCTC c.1380
N V E Y C D Y R K H S S W G | Y C Y Y K L p.460
. . . . . | 10 g.33137
CAGGTTGACTTCTCCTCAGACCACCTGGGCTGTTTCACCAAGTGCCGGAAGCCATGCAG | C c.1440
Q V D F S S D H L G C F T K C R K P C S | p.480
. . . . . | 11. g.33355
GTGACCAGCTACCAGCTCTCTGCTGGTTACTCACGATGGCCCTCGGTGACATCCCAG | GAA c.1500
V T S Y Q L S A G Y S R W P S V T S Q | E p.500
. . . . . | 12 . g.33562
TGGGTCTTCCAGATGCTATCGCGACAGAACAATTACACCGTCAACAACAAGAG | AAATGGA c.1560
W V F Q M L S R Q N N Y T V N N K R | N G p.520
. . . . . . g.33622
GTGGCCAAAGTCAACATCTTCTTCAAGGAGCTGAACTACAAAACCAATTCTGAGTCTCCC c.1620
V A K V N I F F K E L N Y K T N S E S P p.540
| 13 . . . . . g.34155
TCTGTCACG | ATGGTCACCCTCCTGTCCAACCTGGGCAGCCAGTGGAGCCTGTGGTTCGGC c.1680
S V T | M V T L L S N L G S Q W S L W F G p.560
. . . . . . g.34215
TCCTCGGTGTTGTCTGTGGTGGAGATGGCTGAGCTCGTCTTTGACCTGCTGGTCATCATG c.1740
S S V L S V V E M A E L V F D L L V I M p.580
. . . . . . g.34275
TTCCTCATGCTGCTCCGAAGGTTCCGAAGCCGATACTGGTCTCCAGGCCGAGGGGGCAGG c.1800
F L M L L R R F R S R Y W S P G R G G R p.600
. . . . . . g.34335
GGTGCTCAGGAGGTAGCCTCCACCCTGGCATCCTCCCCTCCTTCCCACTTCTGCCCCCAC c.1860
G A Q E V A S T L A S S P P S H F C P H p.620
. . . . . . g.34395
CCCATGTCTCTGTCCTTGTCCCAGCCAGGCCCTGCTCCCTCTCCAGCCTTGACAGCCCCT c.1920
P M S L S L S Q P G P A P S P A L T A P p.640
. . . . . . g.34455
CCCCCTGCCTATGCCACCCTGGGCCCCCGCCCATCTCCAGGGGGCTCTGCAGGGGCCAGT c.1980
P P A Y A T L G P R P S P G G S A G A S p.660
. . . g.34485
TCCTCCACCTGTCCTCTGGGGGGGCCCTGA c.2010
S S T C P L G G P X p.669
. . . . . . g.34545
gagggaaggagaggtttctcacaccaaggcagatgctcctctggtgggagggtgctggcc c.*60
. . . . . . g.34605
ctggcaagattgaaggatgtgcagggcttcctctcagagccgcccaaactgccgttgatg c.*120
. . . . . . g.34665
tgtggaggggaagcaagatgggtaagggctcaggaagttgctccaagaacagtagctgat c.*180
. . . . . . g.34725
gaagctgcccagaagtgccttggctccagccctgtaccccttggtactgcctctgaacac c.*240
. . . . . . g.34785
tctggtttccccacccaactgcggctaagtctctttttcccttggatcagccaagcgaaa c.*300
. . . . . . g.34845
cttggagctttgacaaggaactttcctaagaaaccgctgataaccaggacaaaacacaac c.*360
. . . . . . g.34905
caagggtacacgcaggcatgcacgggtttcctgcccagcgacggcttaagccagcccccg c.*420
. . . . . . g.34965
actggcctggccacactgctctccagtagcacagatgtctgctcctcctcttgaacttgg c.*480
. . . . . . g.35025
gtgggaaaccccacccaaaagccccctttgttacttaggcaattccccttccctgactcc c.*540
. . . . . . g.35085
cgagggctagggctagagcagacccgggtaagtaaaggcagacccagggctcctctagcc c.*600
. . . . . . g.35145
tcatacccgtgccctcacagagccatgccccggcacctctgccctgtgtctttcatacct c.*660
. . . . . . g.35205
ctacatgtctgcttgagatatttcctcagcctgaaagtttccccaaccatctgccagaga c.*720
. . . . . . g.35265
actcctatgcatcccttagaaccctgctcagacaccattacttttgtgaacgcttctgcc c.*780
. . . . . . g.35325
acatcttgtcttccccaaaattgatcactccgccttctcctgggctcccgtagcacacta c.*840
. . . . . . g.35385
taacatctgctggagtgttgctgttgcaccatactttcttgtacatttgtgtctcccttc c.*900
. . . . . . g.35445
ccaactagactgtaagtgccttgcggtcagggactgaatcttgcccgtttatgtatgctc c.*960
. . . . . . g.35505
catgtctagcccatcatcctgcttggagcaagtaggcaggagctcaataaatgtttgttg c.*1020
. g.35515
catgaaggaa c.*1030
(downstream sequence)
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