(used for variant description)
(last modified November 4, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_175607.2 in the CNTN4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering CNTN4 transcript NM_175607.2.
(upstream sequence)
. . . g.5039
gttcgacgccaggattggctgcaagtagggagctttcgc c.-301
. . . . . . g.5099
cgccgccccgggcccctcggactgtgccggcgccgcacccgaggctctcgccagcccggc c.-241
. . | 02 . . . . g.6738
gccccggtgctgag | tgggtgaaaaagaacagtgtgtcatgaagacaggcacctggaggtg c.-181
. . . . | 03 . . g.245336
atttgggtggcattcatgagaaaattcacgttaccc | gaatcattgacatagagtaactcc c.-121
. . . . | 04 . . g.477578
acagcatgtgtcttcaagagcttccctaaaag | attaaaggttatacaaaacttaaaagaa c.-61
. . . . . . g.477638
gcagcaattctattcgcttgttattggacttgaaactccctttgacctcggaaactgaag c.-1
. . . . . | 05 . g.642354
ATGAGGTTGCCATGGGAACTGCTGGTACTGCAATCATTCATTTTGTGCCTTGCAG | ATGAT c.60
M R L P W E L L V L Q S F I L C L A D | D p.20
. . . . . . g.642414
TCCACACTGCATGGCCCGATTTTTATTCAAGAACCAAGTCCTGTAATGTTCCCTTTGGAT c.120
S T L H G P I F I Q E P S P V M F P L D p.40
. . . . . . g.642474
TCTGAGGAGAAAAAAGTGAAGCTCAATTGTGAAGTTAAAGGAAATCCAAAACCTCATATC c.180
S E E K K V K L N C E V K G N P K P H I p.60
| 06 . . . . . . g.651714
AG | GTGGAAGTTAAATGGAACAGATGTTGACACTGGTATGGATTTCCGCTACAGTGTTGTT c.240
R | W K L N G T D V D T G M D F R Y S V V p.80
. . . . . . g.651774
GAAGGGAGCTTGTTGATCAATAACCCCAATAAAACCCAAGATGCTGGAACGTACCAGTGC c.300
E G S L L I N N P N K T Q D A G T Y Q C p.100
. . . . . | 07 g.725622
ACAGCGACAAACTCGTTTGGAACAATTGTTAGCAGAGAAGCAAAGCTTCAGTTTGCTT | AT c.360
T A T N S F G T I V S R E A K L Q F A Y | p.120
. . . . . . g.725682
CTTGACAACTTTAAAACAAGAACAAGAAGCACTGTGTCTGTCCGTCGAGGTCAAGGAATG c.420
L D N F K T R T R S T V S V R R G Q G M p.140
. . . | 08 . . . g.772912
GTGCTACTGTGTGGCCCGCCACCCCATTCTGGAG | AGCTGAGTTATGCCTGGATCTTCAAT c.480
V L L C G P P P H S G E | L S Y A W I F N p.160
. . . . . . g.772972
GAATACCCTTCCTATCAGGATAATCGCCGCTTTGTTTCTCAAGAGACTGGGAATCTGTAT c.540
E Y P S Y Q D N R R F V S Q E T G N L Y p.180
. . . . . . g.773032
ATTGCCAAAGTAGAAAAATCAGATGTTGGGAATTATACCTGTGTGGTTACCAATACCGTG c.600
I A K V E K S D V G N Y T C V V T N T V p.200
. . . . . | 09 . g.789287
ACAAACCACAAGGTCCTGGGGCCACCTACACCACTAATATTGAGAAATGATG | GAGTGATG c.660
T N H K V L G P P T P L I L R N D G | V M p.220
. . . . . . g.789347
GGTGAATATGAGCCCAAAATAGAAGTGCAGTTCCCAGAAACAGTTCCGACTGCAAAAGGA c.720
G E Y E P K I E V Q F P E T V P T A K G p.240
. . . | 10 . . . g.793199
GCAACGGTGAAGCTGGAATGCTTTGCTTTAGGAAA | TCCAGTACCAACTATTATCTGGCGA c.780
A T V K L E C F A L G N | P V P T I I W R p.260
. . . . . . g.793259
AGAGCTGATGGAAAGCCAATAGCAAGGAAAGCCAGAAGACACAAGTCAAATGGAATTCTT c.840
R A D G K P I A R K A R R H K S N G I L p.280
. . . . . . g.793319
GAGATCCCTAATTTTCAGCAGGAGGATGCTGGTTTATATGAATGTGTAGCTGAAAATTCC c.900
E I P N F Q Q E D A G L Y E C V A E N S p.300
. . . . | 11 . . g.806839
AGAGGGAAAAATGTAGCAAGGGGACAGCTAACTTTCTATG | CTCAACCTAATTGGATTCAA c.960
R G K N V A R G Q L T F Y A | Q P N W I Q p.320
. . . . . . g.806899
AAAATAAATGATATTCACGTGGCCATGGAAGAAAATGTCTTTTGGGAATGTAAAGCAAAT c.1020
K I N D I H V A M E E N V F W E C K A N p.340
. . . . . | 12. g.809013
GGAAGGCCTAAGCCTACATACAAGTGGCTAAAAAATGGCGAACCTCTGCTAACTCGG | GAT c.1080
G R P K P T Y K W L K N G E P L L T R | D p.360
. . . . . . g.809073
AGAATTCAAATTGAGCAAGGAACACTCAACATAACAATAGTGAACCTCTCAGATGCTGGC c.1140
R I Q I E Q G T L N I T I V N L S D A G p.380
. . . . . . g.809133
ATGTATCAGTGTTTGGCAGAGAATAAACATGGAGTTATCTTTTCCAACGCAGAGCTTAGT c.1200
M Y Q C L A E N K H G V I F S N A E L S p.400
| 13. . . . . . g.831816
GTTATAG | CTGTAGGTCCAGATTTTTCAAGAACACTCTTGAAAAGAGTAACTCTTGTCAAA c.1260
V I A | V G P D F S R T L L K R V T L V K p.420
. . . . . . g.831876
GTGGGAGGTGAAGTTGTCATTGAGTGTAAGCCAAAAGCGTCTCCAAAACCTGTTTACACC c.1320
V G G E V V I E C K P K A S P K P V Y T p.440
. . . | 14 . . g.894501
TGGAAGAAAGGAAGGGATATATTAAAAGAAAATGAAAG | AATTACCATTTCTGAAGATGGA c.1380
W K K G R D I L K E N E R | I T I S E D G p.460
. . . . . . g.894561
AACCTCAGAATCATCAACGTTACTAAATCAGACGCTGGGAGTTATACCTGTATAGCCACT c.1440
N L R I I N V T K S D A G S Y T C I A T p.480
. . . . | 15 . . g.932250
AACCATTTTGGAACTGCTAGCAGTACTGGAAACTTGGTAGTGAAAG | ATCCAACAAGGGTA c.1500
N H F G T A S S T G N L V V K D | P T R V p.500
. . . . . . g.932310
ATGGTACCCCCTTCCAGTATGGATGTCACTGTTGGAGAGAGTATTGTTTTACCGTGCCAG c.1560
M V P P S S M D V T V G E S I V L P C Q p.520
. . . . . . g.932370
GTAACGCATGATCACTCGCTAGACATCGTGTTTACTTGGTCATTTAATGGACACCTGATA c.1620
V T H D H S L D I V F T W S F N G H L I p.540
. . . . | 16 . . g.937007
GACTTTGACAGAGATGGGGACCACTTTGAAAGAGTTGGAGGG | CAGGATTCAGCTGGTGAT c.1680
D F D R D G D H F E R V G G | Q D S A G D p.560
. . . . . . g.937067
TTGATGATCCGAAACATCCAACTGAAGCATGCTGGGAAATATGTCTGCATGGTCCAAACA c.1740
L M I R N I Q L K H A G K Y V C M V Q T p.580
. . . . | 17 . . g.940783
AGTGTGGACAGGCTATCTGCTGCTGCAGACCTGATTGTAAGAG | GTCCTCCAGGTCCCCCA c.1800
S V D R L S A A A D L I V R G | P P G P P p.600
. . . . . . g.940843
GAGGCTGTGACAATAGACGAAATCACAGATACCACTGCTCAGCTCTCCTGGAGACCCGGG c.1860
E A V T I D E I T D T T A Q L S W R P G p.620
. . . . . . g.940903
CCTGACAACCACAGCCCCATCACCATGTATGTCATTCAAGCCAGGACTCCATTCTCCGTG c.1920
P D N H S P I T M Y V I Q A R T P F S V p.640
. . | 18 . . . . g.943351
GGCTGGCAAGCAGTCAGTACAG | TCCCAGAACTCATTGATGGGAAGACATTCACAGCGACC c.1980
G W Q A V S T V | P E L I D G K T F T A T p.660
. . . . . . g.943411
GTGGTGGGTTTGAACCCTTGGGTTGAATATGAATTCCGCACAGTTGCAGCCAACGTGATT c.2040
V V G L N P W V E Y E F R T V A A N V I p.680
. . . . . | 19 . g.945075
GGGATTGGGGAGCCCAGCCGCCCCTCAGAGAAACGGAGAACAGAAGAAGCTC | TCCCCGAA c.2100
G I G E P S R P S E K R R T E E A L | P E p.700
. . . . . . g.945135
GTCACACCAGCGAATGTCAGTGGTGGCGGAGGCAGCAAATCTGAACTGGTTATAACCTGG c.2160
V T P A N V S G G G G S K S E L V I T W p.720
| 20 . . . . . . g.946228
GAG | ACGGTCCCTGAGGAATTACAGAATGGTCGAGGCTTTGGTTATGTGGTGGCCTTCCGG c.2220
E | T V P E E L Q N G R G F G Y V V A F R p.740
. . . . . . g.946288
CCCTACGGTAAAATGATCTGGATGCTGACAGTGCTGGCCTCAGCTGATGCCTCTAGATAC c.2280
P Y G K M I W M L T V L A S A D A S R Y p.760
. . . . . . g.946348
GTGTTCAGGAATGAGAGCGTGCACCCCTTCTCTCCCTTTGAGGTTAAAGTAGGTGTCTTC c.2340
V F R N E S V H P F S P F E V K V G V F p.780
. . . . . | 21 g.948446
AACAACAAAGGAGAAGGCCCTTTCAGTCCCACCACGGTGGTGTATTCTGCAGAAGAAG | AA c.2400
N N K G E G P F S P T T V V Y S A E E E | p.800
. . . . . . g.948506
CCCACCAAACCACCAGCCAGTATCTTTGCCAGAAGTCTTTCTGCCACAGATATTGAAGTT c.2460
P T K P P A S I F A R S L S A T D I E V p.820
. . . . . | 22 . g.949120
TTCTGGGCCTCCCCACTGGAGAAGAATAGAGGACGAATACAAGGTTATGAG | GTTAAATAT c.2520
F W A S P L E K N R G R I Q G Y E | V K Y p.840
. . . . . . g.949180
TGGAGACATGAAGACAAAGAAGAAAATGCTAGAAAAATACGAACAGTTGGAAATCAGACA c.2580
W R H E D K E E N A R K I R T V G N Q T p.860
. . . . . . g.949240
TCAACAAAAATCACGAACTTAAAAGGCAGTGTGCTGTATCACTTAGCTGTCAAGGCATAT c.2640
S T K I T N L K G S V L Y H L A V K A Y p.880
. . . . . | 23 g.949728
AATTCTGCTGGGACAGGCCCCTCTAGTGCAACAGTCAATGTGACAACCCGAAAGCCAC | CA c.2700
N S A G T G P S S A T V N V T T R K P P | p.900
. . . . . . g.949788
CCAAGTCAACCCCCCGGAAACATCATATGGAATTCATCAGACTCCAAAATTATCCTGAAT c.2760
P S Q P P G N I I W N S S D S K I I L N p.920
. . . . . | 24 . g.959950
TGGGATCAAGTGAAGGCCCTGGATAATGAGTCGGAAGTAAAAGGATACAAA | GTCTTGTAC c.2820
W D Q V K A L D N E S E V K G Y K | V L Y p.940
. . . . . . g.960010
AGATGGAACAGACAAAGCAGCACATCTGTCATTGAAACAAATAAAACATCGGTGGAGCTT c.2880
R W N R Q S S T S V I E T N K T S V E L p.960
. . . . . . g.960070
TCTTTGCCTTTCGATGAAGATTATATAATAGAAATTAAGCCATTCAGCGACGGAGGAGAT c.2940
S L P F D E D Y I I E I K P F S D G G D p.980
. . . . | 25 . . g.962274
GGCAGCAGCAGTGAACAAATTCGAATTCCAAAGATATCAA | ATGCCTACGCGAGAGGATCT c.3000
G S S S E Q I R I P K I S N | A Y A R G S p.1000
. . . . . . g.962334
GGGGCTTCCACTTCGAATGCATGTACGCTGTCAGCCATCAGTACAATAATGATTTCCCTC c.3060
G A S T S N A C T L S A I S T I M I S L p.1020
. . g.962355
ACAGCTAGGTCCAGTTTATGA c.3081
T A R S S L X p.1026
. . . . . . g.962415
caaaagttatctgaaggacttgctgtttataatataagcaacatttagctagttgttttg c.*60
. . . . . . g.962475
aagacacccagtactaagtaatattgttgttcaagtacatcttattactggaataaaaat c.*120
. . . . . . g.962535
gttttttgcttctttaggaatggcattatacagtacttcctcaaagcaaatctagctttg c.*180
. . . . . . g.962595
tctgaagtttctttggaaactctgcaatgcactgaagacatctgtaatatgatgttacca c.*240
. . . . . . g.962655
aagcagtttacatatgtccttatatgcatattttttattatatatttagtgttttataga c.*300
. . . . . . g.962715
attttttaaagttaacatataatgtagatattaattttttcctcggctgtaaaatgctat c.*360
. . . . . . g.962775
gggcaacacaatcatgcaattataatttgaaaatatttcctttaaagacagagtttgaaa c.*420
. . . . . . g.962835
ctcatcttggtaaataaattgcaaattactcgtacagttttacaaggatctcatggcaga c.*480
. . . . . . g.962895
acagcggaagacttggtccgtaactcaaggctgttgtatgcaaactactcttctagtggt c.*540
. . . . . . g.962955
taatgcacttgacatgtacagtatgtttcccatgccgttgtgattttgacatgtacagta c.*600
. . . . . . g.963015
tgttttcatgccgttgtgaattttgttgttcaacccaacttgagatggtttcaggaatgg c.*660
. . . . . . g.963075
ctgcaatctcaaaagctcaatgtactgcccaagaggcaccttgtgcaatattcccatccc c.*720
. . . . . . g.963135
tgaatttagcattgtacaggaagattttcttttcactcaactgagttagcattgtctttg c.*780
. . . . . . g.963195
tggtagcattatcttagacattaaatttgaagtaacatatatcctgtagtaacatagacc c.*840
. . . . . . g.963255
caaagttactatagtcaaccaagtctttcaaaggataaaagatcattttattatctttaa c.*900
. . . . . . g.963315
ctgtatctattttgaatgtaaatttaaaaaaagtaattctctgtcaatggattcgtaatt c.*960
. . . . . . g.963375
tctttacaaaatttcttatatataatatgtgtatctctgtaataatagagcccttctttt c.*1020
. . . . . . g.963435
gaatcaaaattacatatggactttggaagattgctcctatttcaacaaatagttgctgca c.*1080
. . . . . . g.963495
agaatttttaatatgactctataaaagctctttagtacaattgtatggtttcttgatgat c.*1140
. . . . . . g.963555
tctgttttgcaataggtagcctagttgctttatatgctttaccttctaggtcttaaaatc c.*1200
. . . . . . g.963615
acacattggaaaatgacaatatcaacaaaactgtattcttatgaaaagaactatttgtta c.*1260
. . . . . . g.963675
caatgagaaaggttttgtgagtaaaccctactggacagtgacataaaaggcaatggaatt c.*1320
. . . . . . g.963735
ttctataaacattttctcatgtaaacatgctgccaccttttcttctttctcagagaactc c.*1380
. . . . . . g.963795
aaatttgctatagtttgtcatttttgcttacaaataatataacttttcaaccttctagtt c.*1440
. . . . . . g.963855
atatttatccaataaagtcataatcgggattccatttgtgtaaaaactagggtggtaacc c.*1500
. . . . . . g.963915
ggaaaaaaatattgtcagtatttcaagctgtgttcctttcttagtttgatatggttactt c.*1560
. . . . . . g.963975
ctatgttgaaataaaatttaaaatcacatgcaaaaaaaaaatcagcaaaataataaaatg c.*1620
. . . . . . g.964035
aacgaaaaaaaatgacacccagggagttcccaaccccagtgtaaatgatatttaccagtg c.*1680
. . . . . . g.964095
atctagcatatgtaatcttttttaaaggtattgttaataaatattctgtcatttgtaaag c.*1740
g.964096
a c.*1741
(downstream sequence)
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