(used for variant description)
(last modified September 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_005199.4 in the CHRNG gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012954.1, covering CHRNG transcript NM_005199.4.
(upstream sequence)
. . g.5021
actgcagagagctgaggcacc c.-1
. . . . . | 02 . g.5270
ATGCATGGGGGCCAGGGGCCGCTGCTCCTCCTGCTGCTGCTGGCTGTCTGCCTGG | GGGCC c.60
M H G G Q G P L L L L L L L A V C L G | A p.20
. . . . . . g.5330
CAGGGCCGGAACCAGGAGGAGCGCCTGCTCGCAGACCTGATGCAAAACTACGACCCCAAC c.120
Q G R N Q E E R L L A D L M Q N Y D P N p.40
. . . . . . g.5390
CTGCGGCCCGCGGAACGAGACTCGGATGTGGTCAATGTCAGCCTGAAGCTAACCCTCACC c.180
L R P A E R D S D V V N V S L K L T L T p.60
. | 03 . . . . . g.5699
AACCTCATCTCCCTG | AACGAGCGAGAGGAAGCCCTCACCACCAATGTCTGGATAGAGATG c.240
N L I S L | N E R E E A L T T N V W I E M p.80
| 04 . . . . . . g.5935
| CAGTGGTGCGACTATCGCCTGCGCTGGGATCCGCGAGACTACGAAGGCCTGTGGGTGCTG c.300
| Q W C D Y R L R W D P R D Y E G L W V L p.100
. . . . . | 05 . g.6657
AGGGTGCCGTCCACCATGGTGTGGCGGCCGGATATCGTGCTGGAGAACAA | CGTGGACGGT c.360
R V P S T M V W R P D I V L E N N | V D G p.120
. . . . . . g.6717
GTCTTCGAGGTGGCCCTCTACTGCAATGTGCTCGTGTCCCCTGACGGCTGTATCTACTGG c.420
V F E V A L Y C N V L V S P D G C I Y W p.140
. . . . . . g.6777
CTGCCGCCTGCCATCTTCCGTTCCGCCTGCTCTATCTCAGTCACCTACTTCCCCTTCGAC c.480
L P P A I F R S A C S I S V T Y F P F D p.160
. . | 06 . . . . g.7730
TGGCAGAACTGCTCCCTTATCTTCCA | GTCCCAGACTTACAGCACCAATGAGATTGATCTG c.540
W Q N C S L I F Q | S Q T Y S T N E I D L p.180
. . . . . . g.7790
CAGCTGAGTCAGGAAGATGGCCAGACCATCGAGTGGATTTTCATTGACCCTGAGGCCTTC c.600
Q L S Q E D G Q T I E W I F I D P E A F p.200
| 07 . . . . . . g.8211
ACAG | AGAATGGGGAGTGGGCCATCCAGCACCGACCAGCCAAGATGCTCCTGGACCCAGCG c.660
T E | N G E W A I Q H R P A K M L L D P A p.220
. . . . . . g.8271
GCGCCAGCCCAGGAAGCAGGCCACCAGAAGGTGGTGTTCTACCTGCTCATCCAGCGCAAG c.720
A P A Q E A G H Q K V V F Y L L I Q R K p.240
. . . . . . g.8331
CCCCTCTTCTACGTCATCAACATCATCGCCCCCTGTGTGCTCATCTCCTCTGTCGCCATC c.780
P L F Y V I N I I A P C V L I S S V A I p.260
. . | 08 . . . . g.8583
CTCATCCACTTCCTTCCTGCCAAGG | CTGGGGGCCAGAAGTGTACCGTCGCCATCAACGTG c.840
L I H F L P A K A | G G Q K C T V A I N V p.280
. . . . . . g.8643
CTCCTGGCCCAGACTGTCTTCCTCTTCCTTGTGGCCAAGAAGGTGCCTGAAACCTCCCAG c.900
L L A Q T V F L F L V A K K V P E T S Q p.300
. . | 09 . . . . g.8898
GCGGTGCCACTCATCAGCAA | GTACCTGACCTTCCTCCTGGTGGTGACCATCCTCATTGTC c.960
A V P L I S K | Y L T F L L V V T I L I V p.320
. . . . . . g.8958
GTGAATGCTGTGGTTGTGCTCAATGTCTCCTTGCGGTCTCCACACACACACTCCATGGCC c.1020
V N A V V V L N V S L R S P H T H S M A p.340
. | 10 . . . . . g.9685
CGAGGGGTCCGCAAG | GTGTTCCTGAGGCTCTTGCCCCAGCTGCTGAGGATGCACGTTCGC c.1080
R G V R K | V F L R L L P Q L L R M H V R p.360
. . . . . . g.9745
CCGCTGGCCCCGGCAGCTGTGCAGGACACCCAGTCCCGGCTACAGAATGGCTCCTCGGGA c.1140
P L A P A A V Q D T Q S R L Q N G S S G p.380
. . . . . . g.9805
TGGTCGATCACAACTGGGGAGGAGGTGGCCCTCTGCCTGCCTCGCAGTGAACTCCTCTTC c.1200
W S I T T G E E V A L C L P R S E L L F p.400
. . . . | 11 . g.10056
CAGCAGTGGCAGCGGCAAGGGCTGGTGGCGGCAGCGCTGGAGAAGCTAG | AGAAAGGCCCG c.1260
Q Q W Q R Q G L V A A A L E K L E | K G P p.420
. . . . . . g.10116
GAGTTAGGGCTGAGCCAGTTCTGTGGCAGCCTGAAGCAGGCTGCCCCAGCCATCCAGGCC c.1320
E L G L S Q F C G S L K Q A A P A I Q A p.440
. . . . . . g.10176
TGTGTGGAAGCCTGCAACCTCATTGCCTGTGCCCGGCACCAGCAGAGTCACTTTGACAAT c.1380
C V E A C N L I A C A R H Q Q S H F D N p.460
| 12 . . . . . . g.10876
| GGGAATGAGGAGTGGTTCCTGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATG c.1440
| G N E E W F L V G R V L D R V C F L A M p.480
. . . . . . g.10936
CTCTCGCTCTTCATCTGTGGCACAGCTGGCATCTTCCTCATGGCCCACTACAACCGGGTG c.1500
L S L F I C G T A G I F L M A H Y N R V p.500
. . . . . g.10990
CCGGCCCTGCCATTCCCTGGAGATCCACGCCCCTACCTGCCCTCACCAGACTGA c.1554
P A L P F P G D P R P Y L P S P D X p.517
. . . . . . g.11050
gccaaccaaccactgtggggcatgtgggagtcacacacgtgggtcacactgagtcttatc c.*60
. . . . . . g.11110
agccacgttctcctactgaggtcctaagtgtgctctttgggaagtgcccttcaggactgt c.*120
. . . . . . g.11170
gtgagccaaacagccctgagaaaagctggggaaacagtctgagctggagtccgagagtgg c.*180
. . . . . . g.11230
ttgggggtgggccgtggctagtgtcctgctgcagtcagcacacacgtgggattggctagc c.*240
. . . . . . g.11290
tcatcctggcaccagccacccctccactcagtgcactcccctcacttaggcaaagcatta c.*300
. . . . . . g.11350
ttcattcccatcagtctgaagcccgaaggactgttttgtataataccttcggacttggga c.*360
. . . . . . g.11410
ctggctccccttttacaagttctccctgaaagagggcagtcacaagaggtgtgaagagta c.*420
. . . . . . g.11470
gcagccgatgctctctccaaagcagggcagcagcccataccagctggcatctcccccccg c.*480
. . . . . . g.11530
tgccttctgggtacaataagcacccaattctcaacagccccagtggcctttccattcatg c.*540
. . . . . . g.11590
tgcatttttctgccactgaccacaagacgatttcctgagttttgtaatcctctttttttt c.*600
. g.11602
tttttttttttt c.*612
(downstream sequence)
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