(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005477.2 in the HCN4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009063.1, covering HCN4 transcript NM_005477.2.
(upstream sequence)
. . . g.5034
caaaaatgccagggaaaggcgagcccagagcttg c.-961
. . . . . . g.5094
gtgatggagaaattgggaagccaccccccacccttcaatcttaggatggggaattcgcaa c.-901
. . . . . . g.5154
ctgaagccggagcttcagacttggggcgcactcccagcttagcccaggaaagagatttaa c.-841
. . . . . . g.5214
gggcgcagcagtgtggatacctctcaccccggccccgaaggtctagcgagggtctaacct c.-781
. . . . . . g.5274
gggccccttgccaggcccgccccccgcccctttccagcccccggcccgtgcgccgctgcc c.-721
. . . . . . g.5334
cctttaagaagcccaggtaggcaggcccggctgctggagccgctcctatggcaacccgcg c.-661
. . . . . . g.5394
agctgcggcggcttcatgaatattccggggcgcgggagcccgagcgctgccggagggcgc c.-601
. . . . . . g.5454
ttcgggggaggcggccgctgatgtaagcccggcgggtcgctgggctccgctcggttgcgg c.-541
. . . . . . g.5514
cgggagccccgggacgggccggacgggccggggcagaggaggcgaggcgagctcgcgggt c.-481
. . . . . . g.5574
ggccagccacaaagcccgggcggcgagacagacggacagccagccctcccgcgggacgca c.-421
. . . . . . g.5634
cgcccgggacccgcgcgggccgtgcgctctgcactccggagcggttccctgagcgccgcg c.-361
. . . . . . g.5694
gccgcagagcctctccggccggcgcccattgttccccgcgggggcggggcgcctggagcc c.-301
. . . . . . g.5754
gggcggcgcgccgcgcccctgaacgccagagggagggagggaggcaagaagggagcgcgg c.-241
. . . . . . g.5814
ggtccccgcgcccagccgggcccgggaggaggtgtagcgcggcgagcccggggactcgga c.-181
. . . . . . g.5874
gcgggactaggatcctccccgcggcgcgcagcctgcccaagcatgggcgcctgaggctgc c.-121
. . . . . . g.5934
ccccacgccggcggcaaaggacgcgtccccacgggcggactgaccggcgggcggacctgg c.-61
. . . . . . g.5994
agcccgtccgcggcgccgcgctcctgcccccggcccggtccgaccccggcccctggcgcc c.-1
. . . . . . g.6054
ATGGACAAGCTGCCGCCGTCCATGCGCAAGCGGCTCTACAGCCTCCCGCAGCAGGTGGGG c.60
M D K L P P S M R K R L Y S L P Q Q V G p.20
. . . . . . g.6114
GCCAAGGCGTGGATCATGGACGAGGAAGAGGACGCCGAGGAGGAGGGGGCCGGGGGCCGC c.120
A K A W I M D E E E D A E E E G A G G R p.40
. . . . . . g.6174
CAAGACCCCAGCCGCAGGAGCATCCGGCTGCGGCCACTGCCCTCGCCCTCCCCCTCGGCG c.180
Q D P S R R S I R L R P L P S P S P S A p.60
. . . . . . g.6234
GCCGCGGGTGGCACGGAGTCCCGGAGCTCGGCCCTCGGGGCAGCGGACAGCGAAGGGCCG c.240
A A G G T E S R S S A L G A A D S E G P p.80
. . . . . . g.6294
GCCCGCGGCGCGGGCAAGTCCAGCACGAACGGCGACTGCAGGCGCTTCCGCGGGAGCCTG c.300
A R G A G K S S T N G D C R R F R G S L p.100
. . . . . . g.6354
GCCTCGCTGGGCAGCCGGGGCGGCGGCAGCGGCGGCACGGGGAGCGGCAGCAGTCACGGA c.360
A S L G S R G G G S G G T G S G S S H G p.120
. . . . . . g.6414
CACCTGCATGACTCCGCGGAGGAGCGGCGGCTCATCGCCGAGGGCGACGCGTCCCCCGGC c.420
H L H D S A E E R R L I A E G D A S P G p.140
. . . . . . g.6474
GAGGACAGGACGCCCCCAGGCCTGGCGGCCGAGCCCGAGCGCCCCGGCGCCTCGGCGCAG c.480
E D R T P P G L A A E P E R P G A S A Q p.160
. . . . . . g.6534
CCCGCAGCCTCGCCGCCGCCGCCCCAGCAGCCACCGCAGCCGGCCTCCGCCTCCTGCGAG c.540
P A A S P P P P Q Q P P Q P A S A S C E p.180
. . . . . . g.6594
CAGCCCTCGGTGGACACCGCTATCAAAGTGGAGGGAGGCGCGGCTGCCGGCGACCAGATC c.600
Q P S V D T A I K V E G G A A A G D Q I p.200
. . . . . . g.6654
CTCCCGGAGGCCGAGGTGCGCCTGGGCCAGGCCGGCTTCATGCAGCGCCAGTTCGGGGCC c.660
L P E A E V R L G Q A G F M Q R Q F G A p.220
. . . . . . g.6714
ATGCTCCAACCCGGGGTCAACAAATTCTCCCTAAGGATGTTCGGCAGCCAGAAAGCCGTG c.720
M L Q P G V N K F S L R M F G S Q K A V p.240
. . . . . . g.6774
GAGCGCGAACAGGAGAGGGTCAAGTCGGCCGGATTTTGGATTATCCACCCCTACAGTGAC c.780
E R E Q E R V K S A G F W I I H P Y S D p.260
| 02 . . . . . . g.30511
TTCAG | ATTTTACTGGGACCTGACCATGCTGCTGCTGATGGTGGGAAACCTGATTATCATT c.840
F R | F Y W D L T M L L L M V G N L I I I p.280
. . . . . . g.30571
CCTGTGGGCATCACCTTCTTCAAGGATGAGAACACCACACCCTGGATTGTCTTCAATGTG c.900
P V G I T F F K D E N T T P W I V F N V p.300
. . . . . . g.30631
GTGTCAGACACATTCTTCCTCATCGACTTGGTCCTCAACTTCCGCACAGGGATCGTGGTG c.960
V S D T F F L I D L V L N F R T G I V V p.320
. . . . . . g.30691
GAGGACAACACAGAGATCATCCTGGACCCGCAGCGGATTAAAATGAAGTACCTGAAAAGC c.1020
E D N T E I I L D P Q R I K M K Y L K S p.340
. . . . . . g.30751
TGGTTCATGGTAGATTTCATTTCCTCCATCCCCGTGGACTACATCTTCCTCATTGTGGAG c.1080
W F M V D F I S S I P V D Y I F L I V E p.360
. . . . . . g.30811
ACACGCATCGACTCGGAGGTCTACAAGACTGCCCGGGCCCTGCGCATTGTCCGCTTCACG c.1140
T R I D S E V Y K T A R A L R I V R F T p.380
. . . . . . g.30871
AAGATCCTCAGCCTCTTACGCCTGTTACGCCTCTCCCGCCTCATTCGATATATTCACCAG c.1200
K I L S L L R L L R L S R L I R Y I H Q p.400
| 03 . . . . . g.42023
TGGGAAGAG | ATCTTCCACATGACCTACGACCTGGCCAGCGCCGTGGTGCGCATCGTGAAC c.1260
W E E | I F H M T Y D L A S A V V R I V N p.420
. . . . . . g.42083
CTCATCGGCATGATGCTCCTGCTCTGCCACTGGGACGGCTGCCTGCAGTTCCTGGTACCC c.1320
L I G M M L L L C H W D G C L Q F L V P p.440
. . . . . | 04 . g.44482
ATGCTACAGGACTTCCCTGACGACTGCTGGGTGTCCATCAACAACATGGTG | AACAACTCC c.1380
M L Q D F P D D C W V S I N N M V | N N S p.460
. . . . . . g.44542
TGGGGGAAGCAGTACTCCTACGCGCTCTTCAAGGCCATGAGCCACATGCTGTGCATCGGC c.1440
W G K Q Y S Y A L F K A M S H M L C I G p.480
. . . . . . g.44602
TACGGGCGGCAGGCGCCCGTGGGCATGTCCGACGTCTGGCTCACCATGCTCAGCATGATC c.1500
Y G R Q A P V G M S D V W L T M L S M I p.500
. . . . . . g.44662
GTGGGTGCCACCTGCTACGCCATGTTCATTGGCCACGCCACTGCCCTCATCCAGTCCCTG c.1560
V G A T C Y A M F I G H A T A L I Q S L p.520
. . . | 05 . . . g.48850
GACTCCTCCCGGCGCCAGTACCAGGAAAAG | TACAAGCAGGTGGAGCAGTACATGTCCTTT c.1620
D S S R R Q Y Q E K | Y K Q V E Q Y M S F p.540
. . . . . . g.48910
CACAAGCTCCCGCCCGACACCCGGCAGCGCATCCACGACTACTACGAGCACCGCTACCAG c.1680
H K L P P D T R Q R I H D Y Y E H R Y Q p.560
. . . . . | 06. g.49072
GGCAAGATGTTCGACGAGGAGAGCATCCTGGGCGAGCTAAGCGAGCCCCTGCGGGAG | GAG c.1740
G K M F D E E S I L G E L S E P L R E | E p.580
. . . . . . g.49132
ATCATCAACTTTAACTGTCGGAAGCTGGTGGCCTCCATGCCACTGTTTGCCAATGCGGAC c.1800
I I N F N C R K L V A S M P L F A N A D p.600
. . . . . . g.49192
CCCAACTTCGTGACGTCCATGCTGACCAAGCTGCGTTTCGAGGTCTTCCAGCCTGGGGAC c.1860
P N F V T S M L T K L R F E V F Q P G D p.620
. . . . . . g.49252
TACATCATCCGGGAAGGCACCATTGGCAAGAAGATGTACTTCATCCAGCATGGCGTGGTC c.1920
Y I I R E G T I G K K M Y F I Q H G V V p.640
. . . . . | 07 g.50013
AGCGTGCTCACCAAGGGCAACAAGGAGACCAAGCTGGCCGACGGCTCCTACTTTGGAG | AG c.1980
S V L T K G N K E T K L A D G S Y F G E | p.660
. . . . . . g.50073
ATCTGCCTGCTGACCCGGGGCCGGCGCACAGCCAGCGTGAGGGCCGACACCTACTGCCGC c.2040
I C L L T R G R R T A S V R A D T Y C R p.680
. . . . . . g.50133
CTCTACTCGCTGAGCGTGGACAACTTCAATGAGGTGCTGGAGGAGTACCCCATGATGCGA c.2100
L Y S L S V D N F N E V L E E Y P M M R p.700
. . . . | 08 . . g.50332
AGGGCCTTCGAGACCGTGGCGCTGGACCGCCTGGACCGCATTG | GCAAGAAGAACTCCATC c.2160
R A F E T V A L D R L D R I G | K K N S I p.720
. . . . . . g.50392
CTCCTCCACAAAGTCCAGCACGACCTCAACTCCGGCGTCTTCAACTACCAGGAGAATGAG c.2220
L L H K V Q H D L N S G V F N Y Q E N E p.740
. . . . . . g.50452
ATCATCCAGCAGATTGTGCAGCATGACCGGGAGATGGCCCACTGCGCGCACCGCGTCCAG c.2280
I I Q Q I V Q H D R E M A H C A H R V Q p.760
. . . . . . g.50512
GCTGCTGCCTCTGCCACCCCAACCCCCACGCCCGTCATCTGGACCCCGCTGATCCAGGCA c.2340
A A A S A T P T P T P V I W T P L I Q A p.780
. . . . . . g.50572
CCACTGCAGGCTGCCGCTGCCACCACTTCTGTGGCCATAGCCCTCACCCACCACCCTCGC c.2400
P L Q A A A A T T S V A I A L T H H P R p.800
. . . . . . g.50632
CTGCCTGCTGCCATCTTCCGCCCTCCCCCAGGATCTGGGCTGGGCAACCTCGGTGCCGGG c.2460
L P A A I F R P P P G S G L G N L G A G p.820
. . . . . . g.50692
CAGACGCCAAGGCACCTGAAACGGCTGCAGTCCCTGATCCCTTCTGCGCTGGGCTCCGCC c.2520
Q T P R H L K R L Q S L I P S A L G S A p.840
. . . . . . g.50752
TCGCCCGCCAGCAGCCCGTCCCAGGTGGACACACCGTCTTCATCCTCCTTCCACATCCAA c.2580
S P A S S P S Q V D T P S S S S F H I Q p.860
. . . . . . g.50812
CAGCTGGCTGGATTCTCTGCCCCCGCTGGACTGAGCCCACTCCTGCCCTCATCCAGCTCC c.2640
Q L A G F S A P A G L S P L L P S S S S p.880
. . . . . . g.50872
TCCCCACCCCCCGGGGCCTGTGGCTCCCCCTCGGCTCCCACACCATCAGCTGGCGTAGCC c.2700
S P P P G A C G S P S A P T P S A G V A p.900
. . . . . . g.50932
GCCACCACCATAGCCGGGTTTGGCCACTTCCACAAGGCGCTGGGTGGCTCCCTGTCCTCC c.2760
A T T I A G F G H F H K A L G G S L S S p.920
. . . . . . g.50992
TCCGACTCTCCCCTGCTCACCCCGCTGCAGCCAGGCGCCCGCTCCCCGCAGGCTGCCCAG c.2820
S D S P L L T P L Q P G A R S P Q A A Q p.940
. . . . . . g.51052
CCATCTCCCGCGCCACCCGGGGCCCGGGGAGGCCTGGGACTCCCGGAGCACTTCCTGCCA c.2880
P S P A P P G A R G G L G L P E H F L P p.960
. . . . . . g.51112
CCCCCACCCTCATCCAGATCCCCGTCATCTAGCCCCGGGCAGCTGGGCCAGCCTCCCGGG c.2940
P P P S S R S P S S S P G Q L G Q P P G p.980
. . . . . . g.51172
GAGTTGTCCCTAGGTCTGGCCACTGGCCCACTGAGCACGCCAGAGACACCCCCACGGCAG c.3000
E L S L G L A T G P L S T P E T P P R Q p.1000
. . . . . . g.51232
CCTGAGCCGCCGTCCCTTGTGGCAGGGGCCTCTGGGGGGGCTTCCCCTGTAGGCTTTACT c.3060
P E P P S L V A G A S G G A S P V G F T p.1020
. . . . . . g.51292
CCCCGAGGAGGTCTCAGCCCCCCTGGCCACAGCCCAGGCCCCCCAAGAACCTTCCCGAGT c.3120
P R G G L S P P G H S P G P P R T F P S p.1040
. . . . . . g.51352
GCCCCGCCCCGGGCCTCTGGCTCCCACGGATCCTTGCTCCTGCCACCTGCATCCAGCCCC c.3180
A P P R A S G S H G S L L L P P A S S P p.1060
. . . . . . g.51412
CCACCACCCCAGGTCCCCCAGCGCCGGGGCACACCCCCGCTCACCCCCGGCCGCCTCACC c.3240
P P P Q V P Q R R G T P P L T P G R L T p.1080
. . . . . . g.51472
CAGGACCTCAAGCTCATCTCCGCGTCTCAGCCAGCCCTGCCTCAGGACGGGGCGCAGACT c.3300
Q D L K L I S A S Q P A L P Q D G A Q T p.1100
. . . . . . g.51532
CTCCGCAGAGCCTCCCCGCACTCCTCAGGGGAGTCCATGGCTGCCTTCCCGCTCTTCCCC c.3360
L R R A S P H S S G E S M A A F P L F P p.1120
. . . . . . g.51592
AGGGCTGGGGGTGGCAGCGGGGGCAGTGGGAGCAGCGGGGGCCTCGGTCCCCCTGGGAGG c.3420
R A G G G S G G S G S S G G L G P P G R p.1140
. . . . . . g.51652
CCCTATGGTGCCATCCCCGGCCAGCACGTCACTCTGCCTCGGAAGACATCCTCAGGTTCT c.3480
P Y G A I P G Q H V T L P R K T S S G S p.1160
. . . . . . g.51712
TTGCCACCCCCTCTGTCTTTGTTTGGGGCAAGAGCCACCTCTTCTGGGGGGCCCCCTCTG c.3540
L P P P L S L F G A R A T S S G G P P L p.1180
. . . . . . g.51772
ACTGCTGGACCCCAGAGGGAACCTGGGGCCAGGCCTGAGCCAGTGCGCTCCAAACTGCCA c.3600
T A G P Q R E P G A R P E P V R S K L P p.1200
. g.51784
TCCAATCTATGA c.3612
S N L X p.1203
. . . . . . g.51844
gctgggcccttccttccctcttctttcttcttttctctcccttccttcttccttcaggtt c.*60
. . . . . . g.51904
taactgtgattaggagatataccaataacagtaataattatttaaaaaaccacacacacc c.*120
. . . . . . g.51964
agaaaaacaaaagacagcagaaaataaccaggtattcttagagctatagatttttggtca c.*180
. . . . . . g.52024
cttgcttttatagactattttaatactcagcactagagggagggagggggagggaggagg c.*240
. . . . . . g.52084
gagcaggcaggtcccaaatgcaaaagccagagaaaggcagatggggtctccggggctggg c.*300
. . . . . . g.52144
caggggtgggagtggccagtgttggcggttcttagagcagatgtgtcattgtgttcattt c.*360
. . . . . . g.52204
agagaaacagctgccatcagcccgttagctgtaacttggagctccactctgcccccagaa c.*420
. . . . . . g.52264
aggggctgccctggggtgtgccctggggagcctcagaagcctgcgaccttgggagaaaag c.*480
. . . . . . g.52324
ggccagggccctgagggcctagcattttttctactgtaaacgtagcaagatctgtatatg c.*540
. . . . . . g.52384
aatatgtatatgtatatgtatgtaagatgtgtatatgtatagctatgtagcgctctgtag c.*600
. . . . . . g.52444
agccatgtagatagccactcacatgtgcgcacacgtgtgcggtctagtttaatcccatgt c.*660
. . . . . . g.52504
tgacaggatgcccaggtcaccttacacccagcaacccgccttggcccacaggctgtgcac c.*720
. . . . . . g.52564
tgcatggtctagggacgttctctctccagtcctcagggaagaggaccccaggacttcgca c.*780
. . . . . . g.52624
gcaggccccctctctccccatctctggtctcaaagccagtcccagcctgacctctcacca c.*840
. . . . . . g.52684
cacggaagtggaagactcccctttcctagggcctcaagcacacaccgccacctctggggc c.*900
. . . . . . g.52744
cgtcagtttgcccatctgtacagtgggaggtgagcggaacttctgtttattgagtctgct c.*960
. . . . . . g.52804
ctgtgccaagcactggtttcgcactttacacacattaactccttcagtttcacaaagacc c.*1020
. . . . . . g.52864
atggggtgggtactttgattctccccatttagcagaggaagaaacagttttgggtaattt c.*1080
. . . . . . g.52924
ttccagaatcatgtaactaggagtggcagagtggggactgatttgaggttcgagtccacg c.*1140
. . . . . . g.52984
cctccttgaggcccaagtctgtgttccttccatcagaaaactgtgttgaggggggctgag c.*1200
. . . . . . g.53044
gtagatggtccccaagcatggtacagaaggaagacaccagattttggcagcagtcaggcc c.*1260
. . . . . . g.53104
tgggtttgaatcccagccctgccacttcttagctgtatgatcttgggcaagttatctgac c.*1320
. . . . . . g.53164
ctttctgtcacctcatttgtaaaatgggaataattatggtactgcctcacaaggacctat c.*1380
. . . . . . g.53224
gaggaccagatgagaaaaatctatatgtgaaatgcccagcccagcgcctggcacatacca c.*1440
. . . . . . g.53284
tggtaggtgctcaataaaaaatcacatttcttctgcccctcatatgcccagcctattgct c.*1500
. . . . . . g.53344
ccagcaaactatgtgagagcccagggagctttggctgagggctccaagacttaaaatctc c.*1560
. . . . . . g.53404
aggactcaggaggtggctgggcctccctaagggcccaaggaaggtgtgtggccagaggtg c.*1620
. . . . . . g.53464
ggtgggagccaggccttgagaagtgggaagacttcaacagggagagagggagggaatggt c.*1680
. . . . . . g.53524
gggtgggatggagtgtatggtggggagattcctgaggtggatgtggagtggtggatcagg c.*1740
. . . . . . g.53584
gctttgggaggggatccccaggctgaggggtcagagggacggccttgggtgatagggtaa c.*1800
. . . . . . g.53644
gggattgtctgggcttagtcctggcaactaggagccataagcaggttccagattgcggga c.*1860
. . . . . . g.53704
acgagaaagcagctcagatgcctttggaggcaccatcctccctcctcccagatgggatct c.*1920
. . . . . . g.53764
tgccagagccaaggtcaggggtctgcccctgcctatagggccagagcaggtatggctgca c.*1980
. . . . . . g.53824
atccccaagtaatgagaagggctggtcccacattatccatccagaaccttccatgctcca c.*2040
. . . . . . g.53884
agccagaatgttggcaagatcgggttttgccttgagctatcctgggatgtgagacaaacc c.*2100
. . . . . . g.53944
gatttctccatagatgggctgcagggagtgggaggcagtactccaggagagaagtgggtg c.*2160
. . . . . . g.54004
aaggttcctgggatcttaggtaaagactagacgccgcctagtactggtctctactgtgct c.*2220
. . . . . . g.54064
ggctcaggagttctgagaactggaaggacttagcctcaacctgagttctgcacacacccc c.*2280
. . . . . . g.54124
ttccccttaaggaaggcagctctgagaggcagcaggacttgatccaaacccacagtcttg c.*2340
. . . . . . g.54184
tcctggaggcagcaggggtgaaggtggagggtccagggccatgaggagcccccttgccat c.*2400
. . . . . . g.54244
cagagcctggcctaaccaccctcttctctacttacacacacatgcattttataatagctc c.*2460
. . . . . . g.54304
tgacccaacctggccactctgcagagactgggacagacaggtgcaggcaatgggccctcc c.*2520
. . . . . . g.54364
cacacccagtcacctacaaggaattttcaaatccacttttaaaacagaaaccggtaaatg c.*2580
. . . . g.54406
cgccgtattgtatattttatttaaataaaaaaaattccagca c.*2622
(downstream sequence)
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