(used for variant description)
(last modified December 17, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000744.6 in the CHRNA4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering CHRNA4 transcript NM_000744.6.
(upstream sequence)
. . . . . g.5051
tcccagccggctgaggcgggcagggccgggcggggccgcgccacggagccc c.-181
. . . . . . g.5111
acagcccggcgctccctgccgcgccgccgccgcaccgcgccccacaggagaagacgaacc c.-121
. . . . . . g.5171
gggcccggcggccgaagcggcccgcgaggcgcgggaggcatgaagttgggcgcgcacggg c.-61
. . . . . . g.5231
cctcgaagcggcggggagccgggagccgcccgcatctagagcccgcgaggtgcgtgcgcc c.-1
. . . . . . g.5291
ATGGAGCTAGGGGGCCCCGGAGCGCCGCGGCTGCTGCCGCCGCTGCTGCTGCTTCTGGGG c.60
M E L G G P G A P R L L P P L L L L L G p.20
. | 02 . . . . . g.6741
ACCGGCCTCCTGCGCG | CCAGCAGCCATGTGGAGACCCGGGCCCACGCCGAGGAGCGGCTC c.120
T G L L R A | S S H V E T R A H A E E R L p.40
. . . . . . g.6801
CTGAAGAAACTCTTCTCCGGTTACAACAAGTGGTCCCGACCCGTGGCCAACATCTCGGAC c.180
L K K L F S G Y N K W S R P V A N I S D p.60
. . . . | 03 . g.9993
GTGGTCCTCGTCCGCTTCGGCCTGTCCATCGCTCAGCTCATTGACGTG | GATGAGAAGAAC c.240
V V L V R F G L S I A Q L I D V | D E K N p.80
. . . | 04 . . . g.10339
CAGATGATGACCACGAACGTATGGGTGAAGCAG | GAGTGGCACGACTACAAGCTGCGCTGG c.300
Q M M T T N V W V K Q | E W H D Y K L R W p.100
. . . . . . g.10399
GACCCAGCTGACTATGAGAATGTCACCTCCATCCGCATCCCCTCCGAGCTCATCTGGCGG c.360
D P A D Y E N V T S I R I P S E L I W R p.120
. . | 05 . . . . g.15406
CCGGACATCGTCCTCTACAACAA | TGCTGACGGGGACTTCGCGGTCACCCACCTGACCAAG c.420
P D I V L Y N N | A D G D F A V T H L T K p.140
. . . . . . g.15466
GCCCACCTGTTCCATGACGGGCGGGTGCAGTGGACTCCCCCGGCCATTTACAAGAGCTCC c.480
A H L F H D G R V Q W T P P A I Y K S S p.160
. . . . . . g.15526
TGCAGCATCGACGTCACCTTCTTCCCCTTCGACCAGCAGAACTGCACCATGAAATTCGGC c.540
C S I D V T F F P F D Q Q N C T M K F G p.180
. . . . . . g.15586
TCCTGGACCTACGACAAGGCCAAGATCGACCTGGTGAACATGCACAGCCGCGTGGACCAG c.600
S W T Y D K A K I D L V N M H S R V D Q p.200
. . . . . . g.15646
CTGGACTTCTGGGAGAGTGGCGAGTGGGTCATCGTGGATGCCGTGGGCACCTACAACACC c.660
L D F W E S G E W V I V D A V G T Y N T p.220
. . . . . . g.15706
AGGAAGTACGAGTGCTGTGCCGAGATCTACCCGGACATCACCTATGCCTTCGTCATCCGG c.720
R K Y E C C A E I Y P D I T Y A F V I R p.240
. . . . . . g.15766
CGGCTGCCGCTCTTCTACACCATCAACCTCATCATCCCCTGCCTGCTCATCTCCTGCCTC c.780
R L P L F Y T I N L I I P C L L I S C L p.260
. . . . . . g.15826
ACCGTGCTGGTCTTCTACCTGCCCTCCGAGTGTGGCGAGAAGATCACGCTGTGCATCTCC c.840
T V L V F Y L P S E C G E K I T L C I S p.280
. . . . . . g.15886
GTGCTGCTGTCGCTCACCGTCTTCCTGCTGCTCATCACCGAGATCATCCCGTCCACCTCA c.900
V L L S L T V F L L L I T E I I P S T S p.300
. . . . . . g.15946
CTGGTCATCCCACTCATCGGCGAGTACCTGCTGTTCACCATGATCTTCGTCACCCTGTCC c.960
L V I P L I G E Y L L F T M I F V T L S p.320
. . . . . . g.16006
ATCGTCATCACGGTCTTCGTGCTCAACGTGCACCACCGCTCGCCACGCACGCACACCATG c.1020
I V I T V F V L N V H H R S P R T H T M p.340
. . . . . . g.16066
CCCACCTGGGTACGCAGGGTCTTCCTGGACATCGTGCCACGCCTGCTCCTCATGAAGCGG c.1080
P T W V R R V F L D I V P R L L L M K R p.360
. . . . . . g.16126
CCGTCCGTGGTCAAGGACAATTGCCGGCGGCTCATCGAGTCCATGCATAAGATGGCCAGT c.1140
P S V V K D N C R R L I E S M H K M A S p.380
. . . . . . g.16186
GCCCCGCGCTTCTGGCCCGAGCCAGAAGGGGAGCCCCCTGCCACGAGCGGCACCCAGAGC c.1200
A P R F W P E P E G E P P A T S G T Q S p.400
. . . . . . g.16246
CTGCACCCGCCCTCACCGTCCTTCTGTGTCCCCCTGGATGTGCCGGCTGAGCCTGGGCCT c.1260
L H P P S P S F C V P L D V P A E P G P p.420
. . . . . . g.16306
TCCTGCAAGTCACCCTCCGACCAGCTCCCTCCTCAGCAGCCCCTGGAAGCTGAGAAAGCC c.1320
S C K S P S D Q L P P Q Q P L E A E K A p.440
. . . . . . g.16366
AGCCCCCACCCCTCGCCTGGACCCTGCCGCCCGCCCCACGGCACCCAGGCACCAGGGCTG c.1380
S P H P S P G P C R P P H G T Q A P G L p.460
. . . . . . g.16426
GCCAAAGCCAGGTCCCTCAGCGTCCAGCACATGTCCAGCCCTGGCGAAGCGGTGGAAGGC c.1440
A K A R S L S V Q H M S S P G E A V E G p.480
. . . . . . g.16486
GGCGTCCGGTGCCGGTCTCGGAGCATCCAGTACTGTGTTCCCCGAGACGATGCCGCCCCC c.1500
G V R C R S R S I Q Y C V P R D D A A P p.500
. . . . . . g.16546
GAGGCAGATGGCCAGGCTGCCGGCGCCCTGGCCTCTCGCAACACCCACTCGGCTGAGCTC c.1560
E A D G Q A A G A L A S R N T H S A E L p.520
. . . . . . g.16606
CCACCCCCAGACCAGCCCTCTCCGTGCAAATGCACATGCAAGAAGGAGCCCTCTTCGGTG c.1620
P P P D Q P S P C K C T C K K E P S S V p.540
. . . . . . g.16666
TCCCCGAGCGCCACGGTCAAGACCCGCAGCACCAAAGCGCCGCCCCCGCACCTGCCCCTG c.1680
S P S A T V K T R S T K A P P P H L P L p.560
. . . . . . g.16726
TCGCCGGCCCTGACCCGGGCGGTGGAGGGCGTCCAGTACATTGCAGACCACCTGAAGGCC c.1740
S P A L T R A V E G V Q Y I A D H L K A p.580
. | 06 . . . . g.19575
GAAGACACAGACTTCTCG | GTGAAGGAGGACTGGAAGTACGTGGCCATGGTCATCGACCGC c.1800
E D T D F S | V K E D W K Y V A M V I D R p.600
. . . . . . g.19635
ATCTTCCTCTGGATGTTCATCATCGTCTGCCTGCTGGGGACGGTGGGCCTCTTCCTGCCG c.1860
I F L W M F I I V C L L G T V G L F L P p.620
. . g.19659
CCCTGGCTGGCTGGCATGATCTAG c.1884
P W L A G M I X p.627
. . . . . . g.19719
gaagggaccgggagcctgcgtggcctggggctgccgtgcacggggccagcatccatgcgg c.*60
. . . . . . g.19779
ccggcctggggccgggctggcttctccctggactctgtggggccacacgtttgccaaatt c.*120
. . . . . . g.19839
ttccttcctgttctgtgtctgctgtaagacggccttggacggggacacggcctctgggga c.*180
. . . . . . g.19899
gaccgagtgtggagctgcttccagttggactgtggcctcaggaggcagtggcttggagca c.*240
. . . . . . g.19959
gaggtgggggtcggcgccttctacctgcaggactcgggctaagtccagttcaagagtctc c.*300
. . . . . . g.20019
ctgagctcccctgcagatggaactcactcctcccagtctctcagcagatctggtgatggt c.*360
. . . . . . g.20079
cccgaccgccccaaggggcccttgaagggagttcacgccccttcagccccaagcgccccg c.*420
. . . . . . g.20139
tcttctggaggcccggccgcctctcccacccaccgtgtcctgcgcctgtgtgggcttcaa c.*480
. . . . . . g.20199
cttctcccccagggtccttgagcctctcgggccccatgagggtgagccagcagcgctcca c.*540
. . . . . . g.20259
atctgcttcgctaggagagggtccaggcagggattgtgtttggttgtgttttgggtaagt c.*600
. . . . . . g.20319
tagtgagaactcaagtcttgtgcctaaggagccttggagaacagagttttgtggagctgg c.*660
. . . . . . g.20379
ttccgcgtggggagaatcgggaggcccacgcgggaccagctctcccctgcgcaggccctc c.*720
. . . . . . g.20439
cgcgggggacaggaacacccagccccagcgagtctggagaccaggactctgccttccagg c.*780
. . . . . . g.20499
cgtagggccagggctctggcaggtggccagggctccacgggggcctagtggcttcagccc c.*840
. . . . . . g.20559
ctggggtacttctgtgttgtgattccccggagctgggaaggtcccgaatggagtccagac c.*900
. . . . . . g.20619
ctgggccctggttcccccaggaccctgagggtttccaccttggcgcgcagcccgggagat c.*960
. . . . . . g.20679
ccgccctgggctctgggttcgggaagaaggacttcctgctacagtagctgtggggagctg c.*1020
. . . . . . g.20739
gtgggggcatccttgaggacctccacctgggagatgctgggaccctcggggcaggaagtc c.*1080
. . . . . . g.20799
cctgagaagcctcatgggagtcagggagccctggggtttccacacaggcccatgccctcc c.*1140
. . . . . . g.20859
gtcctggcagggcaggcagagctcagcacagcctcacccctgcaggcggtatccagaggt c.*1200
. . . . . . g.20919
gagggaggcctgaaatgtttccaggcatgaccctggagcccggcagtgcaccccctaaag c.*1260
. . . . . . g.20979
atggcgcacccggcagccccccagtgtccccaggggcacacttccccttgggatgggcac c.*1320
. . . . . . g.21039
aggctgccccacccctccatgattccaagggcccagaggggcggggccaggatggcgtgt c.*1380
. . . . . . g.21099
cccctgcctgtgagtgacatcggttcaggaggagacagtcaggaagcctcctgctgagtg c.*1440
. . . . . . g.21159
gtccacattctgctgcccccagaccccatccagccaggggtggggatggggttgggctct c.*1500
. . . . . . g.21219
gcgtcccactgagtctcattcctctgtccccgagccgagctctcctgggccagggtctcg c.*1560
. . . . . . g.21279
tcaggaggtgcctgagagcagaatgaataattgaggttaggaacccggcatgccgagtgc c.*1620
. . . . . . g.21339
cccagaaatgccgctgtgtccccgcgggcagtgacgtgagtggggaggagactcaggccc c.*1680
. . . . . . g.21399
acattgcccacacctgcctctgaactgctgctggtcacccccacccccgggtgcctgtga c.*1740
. . . . . . g.21459
ccggggtcctgaggctggggcttttgtgccaggagtgggtgggacacagagacccccgtg c.*1800
. . . . . . g.21519
ccaaatcctgggcatccccagccccctggcccctcccacatcccccgtgtattcaggacc c.*1860
. . . . . . g.21579
ccatctgctgagctctgacctgcccccgctctgccatcagcccctgctgctcctcggcca c.*1920
. . . . . . g.21639
gagctcccaggacgcagggagaccctgggagagtgaggtcatcccggggccatggaagct c.*1980
. . . . . . g.21699
ggcaggagacactggtctcagaggagggatagagacgcagatttcagatgtaagaagccc c.*2040
. . . . . . g.21759
gatccacattgcataagtggacccagctgccagatgtgtgggcagctgcagggagtggcc c.*2100
. . . . . . g.21819
cggggtgctgggcccagctgtggttgttcttttctgggtcaggagtgactgcggagtggc c.*2160
. . . . . . g.21879
tgggacgctcctgccgggggaccctcctgccgggggtggccgcttgcctgggggaagacc c.*2220
. . . . . . g.21939
cctttccctttctttttttttttgaggctcaaaaaaaaaatccaaataaagcaccatatt c.*2280
. . . . . . g.21999
cccaccacgccaaattaaccttgacaacaatgttggcgtatttgcgtccagtgctgtttt c.*2340
. . . . . . g.22059
tattaattaaggtaaaatttacatatggtgagatgcatgctcttcagtggagacccagcc c.*2400
. . . . . . g.22119
cctagaaggtccctccagcccttcctgtcggcgtccctccccatctgtggctctgactta c.*2460
. . . . . . g.22179
agcaccgtggattgacctctccggctcacgaccttcgaggagtcagaatcctgcagttgg c.*2520
. . . . . . g.22239
agcctttgatgtctggcttcttcatcctatgacttagagcttcatccgtgctgttgtgtg c.*2580
. . . . . . g.22299
tgtccgtagctccttgctgtctgttccttcgtttttaattgtgagcagtgttcttctgtc c.*2640
. . . . . . g.22359
tgaataaactaagacgcagtttgtccatcacctgttagtggactttgcttgcagctgtcg c.*2700
. . . . . . g.22419
gtgattaggaatggaggtgccggtgtgtgcatggcactctatccgttatgcatgtttatt c.*2760
. . . . . . g.22479
ttctgcatctgttaatgttttaacatctttcagacccaggactgctcctcctagggccag c.*2820
. . . . . . g.22539
ttagttcccgggggtggacagcttgcctagaacccaccttgccagggctgtgacccccga c.*2880
. . . . . . g.22599
ccccctatcaaagtctcacactaagccaacgtttccccgccctgtgccaggcaccaggca c.*2940
. . . . . . g.22659
gcgggagacactgctgcagctcgaagcctgccggggcgccggcccctctgcggctgcttg c.*3000
. . . . . . g.22719
cgccatcctgccccctccttcccaggggaggccccagtgaaggccctggccagggcttcc c.*3060
. . . . . . g.22779
cagccccttctgcctccggaccggcctgggtgcttcccgtgtggcccggcctggggcgac c.*3120
. . . . . . g.22839
gtggccctcctctcaggaagcgtggtaatctctcaatggctggcctccggagttgtcact c.*3180
. . . . . . g.22899
caggctcccttgtaagttaaggccgggcccaggacactctagggcacgcagctgctgtgg c.*3240
. . . . . . g.22959
gactgctgggttaggtgtcccctggagcagaggcggcttcggatttctaaagtggctgag c.*3300
. . . . . . g.23019
tcctttcaccttgcaccagaaatgctggatcaggcgcagcacacacagcacctggggatg c.*3360
. . . . . . g.23079
caagcccggccagccccatggaccaagccccgccgaccgtgtggcccgccgagcccaggt c.*3420
g.23087
gcggccgc c.*3428
(downstream sequence)
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