(used for variant description)
(last modified June 21, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_175914.4 in the HNF4A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009818.1, covering HNF4A transcript NM_175914.4.
(upstream sequence)
g.5004
ggcc c.-1
. . . . | 02 . g.55268
ATGGTCAGCGTGAACGCGCCCCTCGGGGCTCCAGTGGAGAGTTCTTACG | ACACGTCCCCA c.60
M V S V N A P L G A P V E S S Y D | T S P p.20
. . . . . . g.55328
TCAGAAGGCACCAACCTCAACGCGCCCAACAGCCTGGGTGTCAGCGCCCTGTGTGCCATC c.120
S E G T N L N A P N S L G V S A L C A I p.40
. . . . . . g.55388
TGCGGGGACCGGGCCACGGGCAAACACTACGGTGCCTCGAGCTGTGACGGCTGCAAGGGC c.180
C G D R A T G K H Y G A S S C D G C K G p.60
. . . . | 03 . . g.56596
TTCTTCCGGAGGAGCGTGCGGAAGAACCACATGTACTCCTGCAG | ATTTAGCCGGCAGTGC c.240
F F R R S V R K N H M Y S C R | F S R Q C p.80
. . . . . . g.56656
GTGGTGGACAAAGACAAGAGGAACCAGTGCCGCTACTGCAGGCTCAAGAAATGCTTCCGG c.300
V V D K D K R N Q C R Y C R L K K C F R p.100
. | 04 . . . . g.62934
GCTGGCATGAAGAAGGAAG | CCGTCCAGAATGAGCGGGACCGGATCAGCACTCGAAGGTCA c.360
A G M K K E A | V Q N E R D R I S T R R S p.120
. . . . . . g.62994
AGCTATGAGGACAGCAGCCTGCCCTCCATCAATGCGCTCCTGCAGGCGGAGGTCCTGTCC c.420
S Y E D S S L P S I N A L L Q A E V L S p.140
| 05 . . . . . . g.63760
CGACAG | ATCACCTCCCCCGTCTCCGGGATCAACGGCGACATTCGGGCGAAGAAGATTGCC c.480
R Q | I T S P V S G I N G D I R A K K I A p.160
. . . . . . g.63820
AGCATCGCAGATGTGTGTGAGTCCATGAAGGAGCAGCTGCTGGTTCTCGTTGAGTGGGCC c.540
S I A D V C E S M K E Q L L V L V E W A p.180
. . . . | 06 . . g.67642
AAGTACATCCCAGCTTTCTGCGAGCTCCCCCTGGACGACCAG | GTGGCCCTGCTCAGAGCC c.600
K Y I P A F C E L P L D D Q | V A L L R A p.200
. . . . . . g.67702
CATGCTGGCGAGCACCTGCTGCTCGGAGCCACCAAGAGATCCATGGTGTTCAAGGACGTG c.660
H A G E H L L L G A T K R S M V F K D V p.220
. | 07 . . . . . g.68970
CTGCTCCTAG | GCAATGACTACATTGTCCCTCGGCACTGCCCGGAGCTGGCGGAGATGAGC c.720
L L L G | N D Y I V P R H C P E L A E M S p.240
. . . . . . g.69030
CGGGTGTCCATACGCATCCTTGACGAGCTGGTGCTGCCCTTCCAGGAGCTGCAGATCGAT c.780
R V S I R I L D E L V L P F Q E L Q I D p.260
. . . . | 08 . . g.73231
GACAATGAGTATGCCTACCTCAAAGCCATCATCTTCTTTGACCCAG | ATGCCAAGGGGCTG c.840
D N E Y A Y L K A I I F F D P D | A K G L p.280
. . . . . . g.73291
AGCGATCCAGGGAAGATCAAGCGGCTGCGTTCCCAGGTGCAGGTGAGCTTGGAGGACTAC c.900
S D P G K I K R L R S Q V Q V S L E D Y p.300
. . . . . . g.73351
ATCAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGCTGCTGCTGCTGCTGCCC c.960
I N D R Q Y D S R G R F G E L L L L L P p.320
. . . . . . g.73411
ACCTTGCAGAGCATCACCTGGCAGATGATCGAGCAGATCCAGTTCATCAAGCTCTTCGGC c.1020
T L Q S I T W Q M I E Q I Q F I K L F G p.340
. . . . | 09 . . g.77551
ATGGCCAAGATTGACAACCTGTTGCAGGAGATGCTGCTGGGAG | GGTCCCCCAGCGATGCA c.1080
M A K I D N L L Q E M L L G G | S P S D A p.360
. . . . . . g.77611
CCCCATGCCCACCACCCCCTGCACCCTCACCTGATGCAGGAACATATGGGAACCAACGTC c.1140
P H A H H P L H P H L M Q E H M G T N V p.380
. . . . . . g.77671
ATCGTTGCCAACACAATGCCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGCCCCGA c.1200
I V A N T M P T H L S N G Q M C E W P R p.400
. | 10 . . . . . g.78766
CCCAGGGGACAGGCAG | CCACCCCTGAGACCCCACAGCCCTCACCGCCAGGTGGCTCAGGG c.1260
P R G Q A A | T P E T P Q P S P P G G S G p.420
. . . . . . g.78826
TCTGAGCCCTATAAGCTCCTGCCGGGAGCCGTCGCCACAATCGTCAAGCCCCTCTCTGCC c.1320
S E P Y K L L P G A V A T I V K P L S A p.440
. . . g.78865
ATCCCCCAGCCGACCATCACCAAGCAGGAAGTTATCTAG c.1359
I P Q P T I T K Q E V I X p.452
. . . . . . g.78925
caagccgctggggcttgggggctccactggctccccccagccccctaagagagcacctgg c.*60
. . . . . . g.78985
tgatcacgtggtcacggcaaaggaagacgtgatgccaggaccagtcccagagcaggaatg c.*120
. . . . . . g.79045
ggaaggatgaagggcccgagaacatggcctaagggccacatcccactgccacccttgacg c.*180
. . . . . . g.79105
ccctgctctggataacaagactttgacttggggagacctctactgccttggacaactttt c.*240
. . . . . . g.79165
ctcatgttgaagccactgccttcaccttcaccttcatccatgtccaacccccgacttcat c.*300
. . . . . . g.79225
cccaaaggacagccgcctggagatgacttgaggccttacttaaacccagctcccttcttc c.*360
. . . . . . g.79285
cctagcctggtgcttctcctctcctagcccctgtcatggtgtccagacagagccctgtga c.*420
. . . . . . g.79345
ggctgggtccaattgtggcacttggggcaccttgctcctccttctgctgctgcccccacc c.*480
. . . . . . g.79405
tctgctgcctccctctgctgtcaccttgctcagccatcccgtcttctccaacaccacctc c.*540
. . . . . . g.79465
tccagaggccaaggaggccttggaaacgattcccccagtcattctgggaacatgttgtaa c.*600
. . . . . . g.79525
gcactgactgggaccaggcaccaggcagggtctagaaggctgtggtgagggaagacgcct c.*660
. . . . . . g.79585
ttctcctccaacccaacctcatcctccttcttcagggacttgggtgggtacttgggtgag c.*720
. . . . . . g.79645
gatccctgaaggccttcaacccgagaaaacaaacccaggttggcgactgcaacaggaact c.*780
. . . . . . g.79705
tggagtggagaggaaaagcatcagaaagaggcagaccatccaccaggcctttgagaaagg c.*840
. . . . . . g.79765
gtagaattctggctggtagagcaggtgagatgggacattccaaagaacagcctgagccaa c.*900
. . . . . . g.79825
ggcctagtggtagtaagaatctagcaagaattgaggaagaatggtgtgggagagggatga c.*960
. . . . . . g.79885
tgaagagagagagggcctgctggagagcatagggtctggaacaccaggctgaggtcctga c.*1020
. . . . . . g.79945
tcagcttcaaggagtatgcagggagctgggcttccagaaaatgaacacagcagttctgca c.*1080
. . . . . . g.80005
gaggacgggaggctggaagctgggaggtcaggtggggtggatgatataatgcgggtgaga c.*1140
. . . . . . g.80065
gtaatgaggcttggggctggagaggacaagatgggtaaaccctcacatcagagtgacatc c.*1200
. . . . . . g.80125
caggaggaataagctcccagggcctgtctcaagctcttccttactcccaggcactgtctt c.*1260
. . . . . . g.80185
aaggcatctgacatgcatcatctcatttaatcctcccttcctccctattaacctagagat c.*1320
. . . . . . g.80245
tgtttttgttttttattctcctcctccctccccgccctcacccgccccactccctcctaa c.*1380
. . . . . . g.80305
cctagagattgttacagaagctgaaattgcgttctaagaggtgaagtgattttttttctg c.*1440
. . . . . . g.80365
aaactcacacaactaggaagtggctgagtcaggacttgaacccaggtctccctggatcag c.*1500
. . . . . . g.80425
aacaggagctcttaactacagtggctgaatagcttctccaaaggctccctgtgttctcac c.*1560
. . . . . . g.80485
cgtgatcaagttgaggggcttccggctcccttctacagcctcagaaaccagactcgttct c.*1620
. . . . . . g.80545
tctgggaaccctgcccactcccaggaccaagattggcctgaggctgcactaaaattcact c.*1680
. . . . . . g.80605
tagggtcgagcatcctgtttgctgataaatattaaggagaattcatgactcttgacagct c.*1740
. . . . . . g.80665
tttctctcttcactccccaagtcaaggggaggggtggcaggggtctgtttcctggaagtc c.*1800
. . . . . . g.80725
aggctcatctggcctgttggcatgggggtgggacagtgtgcacagtgtgggggcagggga c.*1860
. . . . . . g.80785
gggctaagcaggcctgggtttgagggctgctccggagaccgtcactccaggtgcattctg c.*1920
. . . . . . g.80845
gaagcattagaccccaggatggagcgaccagcatgtcatccatgtggaatcttggtggct c.*1980
. . . . . . g.80905
ttgaggacattctggaaaatgccactgaccagtgtgaacaaaagggatgtgttatggggc c.*2040
. . . . . . g.80965
tggaggtgtgattaggtaggagggaaactgttggaccgactcctgccccctgctcaacac c.*2100
. . . . . . g.81025
tgacccctctgagtggttggaggcagtgccccagtgcccagaaatcccaccattagtgat c.*2160
. . . . . . g.81085
tgttttttatgagaaagaggcgtggagaagtattggggcaatgtgtcagggaggaatcac c.*2220
. . . . . . g.81145
cacatccctacggcagtcccagccaagcccccaatcccagcggagactgtgccctgctca c.*2280
. . . . . . g.81205
gagctcccaagccttcccccaccacctcactcaagtgcccctgaaatccctgccagacgg c.*2340
. . . . . . g.81265
ctcagcctggtctgcggtaaggcagggaggctggaaccatttctgggcattgtggtcatt c.*2400
. . . . . . g.81325
cccactgtgttcctccacctcctccctccagcgttgctcagacctctgtcttgggagaaa c.*2460
. . . . . . g.81385
ggttgagataagaatgtcccatggagtgccgtgggcaacagtggcccttcatgggaacaa c.*2520
. . . . . . g.81445
tctgttggagcagggggtcagttctctgctgggaatctacccctttctggaggagaaacc c.*2580
. . . . . . g.81505
cattccaccttaataactttattgtaatgtgagaaacacaaaacaaagtttacttttttg c.*2640
. . . . . . g.81565
actctaagctgacatgatattagaaaatctctcgctctcttttttttttttttttttttt c.*2700
. . . . . . g.81625
tttggctacttgagttgtggtcctaaaacataaaatctgatggacaaacagagggttgct c.*2760
. . . . . . g.81685
ggggggacaagcgtgggcacaatttccccaccaagacaccctgatcttcaggcgggtctc c.*2820
. . . . . . g.81745
aggagcttctaaaaatccgcatggctctcctgagagtggacagaggagaggagagggtca c.*2880
. . . . . . g.81805
gaaatgaacgctcttctatttcttgtcattaccaagccaattacttttgccaaatttttc c.*2940
. . . . . . g.81865
tgtgatctgccctgattaagatgaattgtgaaatttacatcaagcaattatcaaagcggg c.*3000
. . . . . . g.81925
ctgggtcccatcagaacgacccacatctttctgtgggtgtgaatgtcattaggtcttgcg c.*3060
. . . . . . g.81985
ctgacccctgagcccccatcactgccgcctgatggggcaaagaaacaaaaaacatttctt c.*3120
. . . . . . g.82045
actcttctgtgttttaacaaaagtttataaaacaaaataaatggcgcatatgttttctaa c.*3180
(downstream sequence)
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