(used for variant description)
(last modified March 13, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000204.3 in the CFI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering CFI transcript NM_000204.3.
(upstream sequence)
. . g.5028
tctttaatgggaaggccattttttggtt c.-181
. . . . . . g.5088
tcagttacggtaaatctctctggatttcagccaaattctttcagagttcaaaagtacaaa c.-121
. . . . . . g.5148
gctctttaggaggtttgttcttttgaaacattttttcagaggttaaaaattaaatttcaa c.-61
. . . . . . g.5208
aagaatacctggagtggaaaagagttctcagcagagacaaagaccccgaacacctccaac c.-1
. . . . . | 02. g.40358
ATGAAGCTTCTTCATGTTTTCCTGTTATTTCTGTGCTTCCACTTAAGGTTTTGCAAG | GTC c.60
M K L L H V F L L F L C F H L R F C K | V p.20
. . . . . . g.40418
ACTTATACATCTCAAGAGGATCTGGTGGAGAAAAAGTGCTTAGCAAAAAAATATACTCAC c.120
T Y T S Q E D L V E K K C L A K K Y T H p.40
. . . . . . g.40478
CTCTCCTGCGATAAAGTCTTCTGCCAGCCATGGCAGAGATGCATTGAGGGCACCTGTGTT c.180
L S C D K V F C Q P W Q R C I E G T C V p.60
. . . . . . g.40538
TGTAAACTACCGTATCAGTGCCCAAAGAATGGCACTGCAGTGTGTGCAACTAACAGGAGA c.240
C K L P Y Q C P K N G T A V C A T N R R p.80
. . . . . . g.40598
AGCTTCCCAACATACTGTCAACAAAAGAGTTTGGAATGTCTTCATCCAGGGACAAAGTTT c.300
S F P T Y C Q Q K S L E C L H P G T K F p.100
. . | 03 . . . g.42521
TTAAATAACGGAACATGCACAGCCGAAG | GAAAGTTTAGTGTTTCCTTGAAGCATGGAAAT c.360
L N N G T C T A E G | K F S V S L K H G N p.120
. . . . . . g.42581
ACAGATTCAGAGGGAATAGTTGAAGTAAAACTTGTGGACCAAGATAAGACAATGTTCATA c.420
T D S E G I V E V K L V D Q D K T M F I p.140
. . . . . . g.42641
TGCAAAAGCAGCTGGAGCATGAGGGAAGCCAACGTGGCCTGCCTTGACCTTGGGTTTCAA c.480
C K S S W S M R E A N V A C L D L G F Q p.160
| 04 . . . . . . g.45545
CA | AGGTGCTGATACTCAAAGAAGGTTTAAGTTGTCTGATCTCTCTATAAATTCCACTGAA c.540
Q | G A D T Q R R F K L S D L S I N S T E p.180
. . . . . . g.45605
TGTCTACATGTGCATTGCCGAGGATTAGAGACCAGTTTGGCTGAATGTACTTTTACTAAG c.600
C L H V H C R G L E T S L A E C T F T K p.200
. . . . . | 05 g.46545
AGAAGAACTATGGGTTACCAGGATTTCGCTGATGTGGTTTGTTATACACAGAAAGCAG | AT c.660
R R T M G Y Q D F A D V V C Y T Q K A D | p.220
. . . . . . g.46605
TCTCCAATGGATGACTTCTTTCAGTGTGTGAATGGGAAATACATTTCTCAGATGAAAGCC c.720
S P M D D F F Q C V N G K Y I S Q M K A p.240
. . . . . | 06 . g.46807
TGTGATGGTATCAATGATTGTGGAGACCAAAGTGATGAACTGTGTTGTAAAG | CATGCCAA c.780
C D G I N D C G D Q S D E L C C K A | C Q p.260
. . . . . . g.46867
GGCAAAGGCTTCCATTGCAAATCGGGTGTTTGCATTCCAAGCCAGTATCAATGCAATGGT c.840
G K G F H C K S G V C I P S Q Y Q C N G p.280
. . . . | 07 . . g.49413
GAGGTGGACTGCATTACAGGGGAAGATGAAGTTGGCTGTGCAG | GCTTTGCATCTGTGACT c.900
E V D C I T G E D E V G C A G | F A S V T p.300
| 08 . . . . | 09 . . g.57597
CAAG | AAGAAACAGAAATTTTGACTGCTGACATGGATGCAG | AAAGAAGACGGATAAAATCA c.960
Q E | E T E I L T A D M D A E | R R R I K S p.320
. . . . . . g.57657
TTATTACCTAAACTATCTTGTGGAGTTAAAAACAGAATGCACATTCGAAGGAAACGAATT c.1020
L L P K L S C G V K N R M H I R R K R I p.340
. . | 10 . . . . g.57894
GTGGGAGGAAAGCGAGCACAACTG | GGAGACCTCCCATGGCAGGTGGCAATTAAGGATGCC c.1080
V G G K R A Q L | G D L P W Q V A I K D A p.360
. . . . . . g.57954
AGTGGAATCACCTGTGGGGGAATTTATATTGGTGGCTGTTGGATTCTGACTGCTGCACAT c.1140
S G I T C G G I Y I G G C W I L T A A H p.380
| 11 . . . . . g.60729
TGTCTCAG | AGCCAGTAAAACTCATCGTTACCAAATATGGACAACAGTAGTAGACTGGATA c.1200
C L R | A S K T H R Y Q I W T T V V D W I p.400
. . . . . . g.60789
CACCCCGACCTTAAACGTATAGTAATTGAATACGTGGATAGAATTATTTTCCATGAAAAC c.1260
H P D L K R I V I E Y V D R I I F H E N p.420
. . . . . . g.60849
TACAATGCAGGCACTTACCAAAATGACATCGCTTTGATTGAAATGAAAAAAGACGGAAAC c.1320
Y N A G T Y Q N D I A L I E M K K D G N p.440
. . . . . . g.60909
AAAAAAGATTGTGAGCTGCCTCGTTCCATCCCTGCCTGTGTCCCCTGGTCTCCTTACCTA c.1380
K K D C E L P R S I P A C V P W S P Y L p.460
. . . . | 12 . g.64595
TTCCAACCTAATGATACATGCATCGTTTCTGGCTGGGGACGAGAAAAAG | ATAACGAAAGA c.1440
F Q P N D T C I V S G W G R E K D | N E R p.480
. . . . . . g.64655
GTCTTTTCACTTCAGTGGGGTGAAGTTAAACTAATAAGCAACTGCTCTAAGTTTTACGGA c.1500
V F S L Q W G E V K L I S N C S K F Y G p.500
. . . | 13 . . . g.66095
AATCGTTTCTATGAAAAAGAAATGGAATGTGCAG | GTACATATGATGGTTCCATCGATGCC c.1560
N R F Y E K E M E C A G | T Y D G S I D A p.520
. . . . . . g.66155
TGTAAAGGGGACTCTGGAGGCCCCTTAGTCTGTATGGATGCCAACAATGTGACTTATGTC c.1620
C K G D S G G P L V C M D A N N V T Y V p.540
. . . . . . g.66215
TGGGGTGTTGTGAGTTGGGGGGAAAACTGTGGAAAACCAGAGTTCCCAGGTGTTTACACC c.1680
W G V V S W G E N C G K P E F P G V Y T p.560
. . . . . . g.66275
AAAGTGGCCAATTATTTTGACTGGATTAGCTACCATGTAGGAAGGCCTTTTATTTCTCAG c.1740
K V A N Y F D W I S Y H V G R P F I S Q p.580
. g.66287
TACAATGTATAA c.1752
Y N V X p.583
. . . . . . g.66347
aattgtgatctctctcttcattctattctttttctctcaagagttccatttaatggaaat c.*60
. . . . . . g.66407
aaaacggtataattaataattctctaggggggaaaaatgaagcaaatctcactggatatt c.*120
. . . . . . g.66467
tttaaaggtctccacagagtttatgccatattggaattttgttgtataattctcaaataa c.*180
. . g.66488
atattttggtgaagcatacaa c.*201
(downstream sequence)
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